NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

18+

  • Abramowicz J S, Warsof S L, Doyle D L, Smith D, Levy D L: Congenital cystic hygroma of the neck diagnosed prenatally: with normal and abnormal karyotype. Prenat. Diag. 9:321-327, 1989. [PubMed: 2657709]
    Index Terms: Cystic hygroma
  • Adinolfi M, Davies A, Sharif S, Soothill P, Rodeck C: Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing. Lancet 342:403-404, 1993. [PubMed: 8101904]
    One case was studied post cvs.
    The combination of collection of fetal cells by transcervical flushing and non-isotopic in situ hybridisation (NISH) techniques is quite promising.
    Index Terms: Transcervical flushing,NISH
  • Adler B, Kushnick T: Genetic counseling in prenatally diagnosed trisomy 18 and 21: psychosocial aspects. Pediatrics 69:94-99, 1982. [PubMed: 6459565]
    Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18)
  • Anderson C E, Punnett H H, Huff V, de Chadarevian J-P.: Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18. AJMG 121A:52-55, 2003. [PubMed: 12900902]
    Index Terms: Wilms tumor in Trisomy 18
  • Anneren G: Incidence of trisomy 18 in Sweden in 1981-1982: Clustering in a small region. Clin. Genet. 29:345-347, 1986. [PubMed: 3720012]
    37 cases, 15 of which were prenatally detected. There were 186,800 births.
  • Atnip R L, Summitt R L: Tetraploidy and 18-trisomy in a six-year-old triple mosaic boy. Cytogenetics 10:305-317, 1971. [PubMed: 5156365]
    46,XY/47,XY,+18/92,XXYY.
    Index Terms: Edwards syndrome (trisomy 18),Tetraploidy
  • Aziz M A: An anatomical study of Edwards syndrome (18-trisomy). Anat. Rec. 193:473, 1979.
    Aziz M A: Muscular and other abnormalities in a case of Edwards syndrome (18-trisomy). Teratology 20:303-312, 1979. [PubMed: 524303]
    Aziz M A: "Possible ""Atavistic"" structures in human aneuploids." Am. J. Phys. Anthro. 54:347-353, 1981. [PubMed: 7234983]
    Index Terms: Edwards syndrome (trisomy 18),Muscles ... anomalies
  • Barkai G, Chaki R, Sochat M, Goldman B: Human chorionic gonadotrophin and trisomy 18. AJMG 41:52-53, 1991. [PubMed: 1719814]
    Patients G.M. and M.S.
    47,XX,+18.
    Low hcG levels might be an indication for trisomy 18.
    Index Terms: Human chorionic gonadotropin
  • Barr M, Jr.: Growth profiles of human autosomal trisomies at midgestation. Teratology 50:395-398, 1994. [PubMed: 7778044]
    Somatic and visceral growth profiles of midgestation demonstrate that each disorder has a charactersitic pattern of growth aberration. The most striking deviations are subnormal adrenal and lung weights.
    Index Terms: Growth profiles
  • Bass H N, Fox M, Wulfsberg E A, Sparkes R S, Crandall B F: Trisomy 18 mosaicism: clues to the diagnosis. Clin. Genet. 22:327-330, 1982. [PubMed: 7160104]
  • Baty B J, Blackburn B L, Carey J C: Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. AJMG 49:175-188, 1994. [PubMed: 8116665]
    Baty B J, Jorde L B, Blackburn B L, Carey J C: Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. AJMG 49:189-194, 1994. [PubMed: 7509567]
    Root S, Carey J C: Survival in trisomy 18. AJMG 49:170-174, 1994. [PubMed: 8116664]
  • Begleiter M L, Harris D J.: Trisomy 18 mosaicism in a 15-year-old boy with normal intelligence and short stature. AJMG 56:426-427, 1995. [PubMed: 7604854]
    Index Terms: Mosaicism, short stature
  • Benacerraf B R: Prenatal sonography of autosomal trisomies. Ultrasound Obstet. Gynecol. 1:66-75, 1991. [PubMed: 12797107]
    Index Terms: Sonography ... prenatal
  • Bensen J T, Steele M W: A mildly retarded woman with 46,XX/47,XX,+18 mosaicism. AJMG 22:343-346, 1985. [PubMed: 4050867]
    Patient was 20 years old and had mild mental retardation, asymmetric face with bushy eyebrows and thick lips, short stature, and older maternal age.
    Index Terms: Edwards syndrome (trisomy 18),Eyebrow ... bushy,Face ... asymmetric (hemi hypertrophy),Lips ... thick, full,Stature ... short (low)
  • Bersinger N A, Leporrier N, Herrou M, Leymarie P.: Maternal serum pregnancy-associated plasma protein A (PAPP-A) but not pregnancy-specific beta1-glycoprotein (SP1) is a useful second-trimester marker for fetal trisomy 18. Prenat. Diag. 19:537-541, 1999. [PubMed: 10416969]
    Muller F, Sault C, Lemay C, Roussel-Mizon N, Forestier F, Frendo J-L, for the ABA collaborative group.: Second trimester two-step trisomy 18 screening using maternal serum markers. Prenat. Diag. 22:605-608, 2002. [PubMed: 12124697]
    The authors suggest that ''such a test can play a useful role whenever the risk of trisomy 18 is found to be only marginally increased after hCG and uE3 measurements''.,
    Index Terms: Pregnancy-associated plasma protein A (PAPP-A)
  • Bettio D, Levi Setti P, Bianchi P, Grazioli V.: Trisomy 18 mosaicism in a woman with normal intelligence. AJMG DOI=10.1002/ajmg.a.20213;120A:303-304, 2003. [PubMed: 12833422]
    Blood=46,XX,+18[70/100].,Skin fibroblasts=46,XX.,Ovary, left=46,XX[16].ish; right=47,XX,+18[20/22].ish [90%]
    The 35 year old patient was referred for infertility. She had mild obesity (70th centile), short stature (3rd centile), and a small area of hyperpigmentation on the right calf but no evidence of congenital anomalies. IVF attempts failed.
    The high degree of mosaicism was confirmed in a repeat blood culture.
  • Biagiotti R, Cariati E, Brizzi L, Cappelli G, D''Agata A.: Maternal serum screening for trisomy 18 in the first trimester of pregnancy. Prenat. Diag. 18:907-913, 1998. [PubMed: 9793972]
    It is pointed out that screening for trisomy 18 using a combination of maternal age, pregnancy-associated plasma protein (PAPP-A) and free beta-hCG would achieve a detection rate of 76.6% for a false-positive rate of 0.5%.
  • Bick D, Markowitz R I, Horwich A: Trisomy 18 associated with ectopia cordis and occipital meningocele. AJMG 30:805-810, 1988. [PubMed: 3189399]
    B. G. W.
    47,XX,+18.
    Index Terms: Ectopia cordis
  • Bird L M, Dixson B, Masser-Frye D, Mestre L, Ribas L, Mullen L, Kalla K, Carder K, Huslig M, Catanzarite V A, Jones M C.: Choroid plexus cysts in the mid-trimester fetus - practical applications suggests superiority of an individualized risk method of counseling for trisomy 18. Prenat. Diag. 22:792-797, 2002. [PubMed: 12224073]
    Index Terms: Choroid plexus cysts
  • Bocian M, Patel J K: Ultrasonographic detection of fetal soft tissue swelling in the midtrimester: correlation with trisomy 18. BD-OAS XVIII(No. 3A):165-171, 1982. [PubMed: 7126790]
  • Boghosian-Sell L, Mewar R, Harrison W, Shapiro R M, Zackai E H, Carey J, Davis-Keppen L, Hudgins L, Overhauser J: Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. AJHG 55:476-483, 1994. [PMC free article: PMC1918415] [PubMed: 8079991]
    Case 1, JL263:
    46,XY,dir dup(18)(q21.1->q22.2).
    Case reported earlier by Lewkonia et al (1980) and cited under 18q230.
    Case 2, JL237:
    47,XX,t(15;18)(q11.2;q11.2),+der(15)t(15;18)pat.
    Case 3, JL240:
    46,XX,der(14)t(14;18)(p11.2;q11.2)mat.
    Case 4, JL273:
    46,XX,der(18)(qter->q21.3::p11.31->qter)mat.
    Maternal relatives reported by Wertelecki and Gerald (1971) and cited under 18p110.
    Case 5, JL277:
    46,XY,der(5)t(5;18)(p14.3;q21.1).
    Case 6, JL298:
    46,XX,dir dup(18)(q21.1->qter).
    Chromosomal Aneuploidy: 18q+
  • Borrell A, Costa D, Martinez J M, Delgado R D, Farguell T, Fortuny A.: Criteria for fetal nuchal thickness cut-off: a re-evaluation. Prenat. Diag. 17:23-29, 1997. [PubMed: 9021825]
    Index Terms: Fetal Nuchal thickness
  • Bos A P, Broers C J M, Hazebroek F W J, van Hemel J O, Tibboel D, Wesby-van Swaay E, Molenaar J C: Avoidance of emergency surgery in newborn infants with trisomy 18. Lancet 339:913-915, 1992. [PubMed: 1348308]
    7 patients are discussed.
    47,XX or XY,+18.
    "A newborn infant with trisomy 18 should be considered as a patient with a hopeless outlook who ought not to be subjected to invasive procedures. The decision to withdraw or withold treatment should be discussed frankly with the parents."
    Index Terms: Emergency surgery
  • Brewer C M, Holloway S H, Stone D H, Carothers A D, FitzPatrick D R.: Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J. Med. Genet. 39:e54-e54, 2002. [PMC free article: PMC1735241] [PubMed: 12205124]
  • Brown T, Kliewer M A, Hertzberg B S, Ruiz C, Stamper T H, Tosnes J, Lucas A, Wright L N, Chescheir N C, Jordan S, Kay H H.: A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study. Prenat. Diag. 19:405-410, 1999. [PubMed: 10360507]
    Brown et al found after an extensive large multicentre study (18,437 scans) 257 fetuses with choroid plexus cysts. All 5cases with chromosomal abnormalities had additional risk factors such as advanced maternal age or abnormal maternal triple-screen results.
    Index Terms: Choroid plexus cysts
  • Bugge M, Collins A, Petersen M B, Fisher J, Brandt C, Hertz J M, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brondum-Nielsen K, Morton N, Mikkelsen M.: Non-disjunction of chromosome 18. Hum. Mol. Genet. 7:661-669, 1998. [PubMed: 9499419]
    The error was mostly in maternal meiosis II.
    Index Terms: Nondisjunction in 18+
  • Bundy A L, Saltzman D H, Pober B, Fine C, Emerson D, Doubilet P M: Antenatal sonographic findings in trisomy 18. J. Ultrasound Med. 5:361-364, 1986. [PubMed: 3522925]
    Data on 15 cases are presented.
    Index Terms: Edwards syndrome (trisomy 18)
  • Butler M G.: Trisomy 18 mosaicism in a 24-year-old white woman with normal intelligence and skeletal abnormalities. AJMG 53:92-93, 1994. [PMC free article: PMC6716595] [PubMed: 7802048]
    Patient was 24 years old.
    mos46,XX(64%)/47,XX,+18(36%) in 220 cells blood.
    Patient worked up as a bone marrow donor.
    Index Terms: Skeletal abnormalities
  • Cacheux V, Tachdjian G, Druart L, Oury J F, Serero S, Blot P, Nessmann C: Evaluation of X, Y, 18, and 13/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization. Prenat. Diag. 14:79-86, 1994. [PubMed: 8183853]
    Index Terms: FISH
  • Camurri L, Ventura A: Prospective study on trisomy 18 and fetal choroid plexus cysts. Prenat. Diag. 9:742, 1989. [PubMed: 2594702]
    Index Terms: Choroid plexus cysts
  • Same entry as in Sutcliffe M J, Mueller O T, Kousseff B G. (2001).
  • Carter P E, Pearn J H, Bell J, Martin N, Anderson N G: Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clin. Genet. 27:59-61, 1985. [PubMed: 3978839]
  • Cassidy S B, Benedetki T J, Sybert V P: Unsuspected trisomy 18: A case for an examination protocol in stillborn infants. Am. J. Obst. Gynecol. 139:221-222, 1981. [PubMed: 7192935]
    Only clinically detectable malformation was a diaphragmatic hernia.
    Index Terms: Edwards syndrome (trisomy 18),Hernia ... diaphragmatic,Still born (premature)
  • Castle D, Bernstein R: Trisomy 18 syndrome with cleft foot. J. Med. Genet. 25:568-570, 1988. [PMC free article: PMC1080037] [PubMed: 3172152]
    Index Terms: Cleft foot
  • Chamyan G, Debich-Spicer D, Opitz J M, Gilbert-Barness E.: Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. AJMG 102:293-296, 2001. [PubMed: 11484210]
    The pregnancy was terminated after ultrasound examination showed the anomalies and decreased amniotic fluid volume.
    The gene for MMIHS map to 15q24. This report suggests some pathogenic heterogeneity.
    MIM#: 249210
    Index Terms: Megacystis-microcolon-intestinal hypoperistalsis (MMIHS) syndrome,aganglionosis
  • Chauvel P J, Moore C M, Haslam R H A: Trisomy-18 mosaicism with features of Russell-Silver syndrome. Develop. Med. Child Neurol. 17:220-223, 1975. [PubMed: 1132609]
    Index Terms: Edwards syndrome (trisomy 18),Russell-Silver syndrome
  • Chen C-P.: Aplasia and duplication of the thumb and facial clefts associated with fetal trisomy 18. AJMG DOI=10.1002/ajmg.a.31174; 140A: 960-963, 2006. [PubMed: 16575887]
    Chen C-P.: Congenital heart defects associated with fetal trisomy 18. Prenat. Diag. 26: 483-485, 2006. [PubMed: 16652405]
    During the study period 1988-2004, 89 consecutive cases were detected.
    41 cases=47,XY,+18.,44 cases=47,XX,+18.,1 case=47,XY,inv(2)(p22q21),+18.,1 case=47,XY,+18/46,XY.,1 case=48,XXX,+18.,1 Case=46,XX,i(18)(q10).
    Preaxial polydactyly was found in 4 cases (4.5%).
    Index Terms: Aplasia,Polydactyly, Duplication of the thumb
  • Cheng E Y, Chen Y J, Gartler S M.: Chromosome painting analysis of early oogenesis in human trisomy 18. Cytogenet. Cell Genet. 70:205-210, 1995. [PubMed: 7789172]
    2 fetuses were studied.
    Trivalents were seen even at leptotene stage.
    Triple synapses may be a regular feature of meiosis involving multivalents.
    Index Terms: Oogenesis
  • Chervenak F A, Goldberg J D, Chin T H, Gilbert F, Berkowitz R L: The importance of karyotype determination in a fetus with ventriculomegaly and spina bifida discovered during the third trimester. J. Ultrasound Med. 5:405-406, 1986. [PubMed: 3522933]
    Index Terms: Edwards syndrome (trisomy 18),Spina bifida
  • Chitayat D, Friedman J M, Johnson M M: Hypomelanosis of Ito-a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism. AJMG 35:422-424, 1990. [PubMed: 2309792]
    mos46,XY/47,XY,+18-blood(6/19).,mos46,XY/47,XY,+18-skin(48/2).
    MIM#: 146150
  • Christensen B, Bryndorf T, Philip J, Lundsteen C, Hansen W: Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non-radioactive in situ hybridization. Prenat. Diag. 12:241-250, 1992. [PubMed: 1614982]
  • Christianson A L, Nelson M M: Four cases of trisomy 18 syndrome with limb reduction malformations. J. Med. Genet. 21:293-297, 1984. [PMC free article: PMC1049301] [PubMed: 6492096]
    Index Terms: Edwards syndrome (trisomy 18)
  • Claussen U, Ulmer R, Beinder E, Voigt H J: Six years'' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat. Diag. 14:113-121, 1994. [PubMed: 8183848]
    25/804 cases.,Anomalies included polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects.
    Index Terms: Polyhydramnios,Oligohydramnios,Gastroschisis,Omphalocele
  • Coerdt W, Rehder H, Gebauer H J, Holzgreve W, Klink F, Miny P, Schulze B: Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks gestation. Prenat. Diag. 8:647-659, 1988. [PubMed: 2974956]
    Case 2.
    47,XY,+18.
    Another possible case of trisomy is also presented (case 4).
  • Colley N, Knott P D, Gould S J: Misdiagnosis of omphalocele associated with Edwards syndrome and congenital heart disease. Prenat. Diag. 7:377-381, 1987. [PubMed: 3303007]
    Index Terms: Congenital heart defects (cardiovascular anomalies),Edwards syndrome (trisomy 18),Omphalocele
  • Collins A L, Fisher J, Crolla J A, Cockwell A E.: Further case of trisomy 18 mosaicism with a mild phenotype. AJMG 56:121-122, 1995. [PubMed: 7747777]
    Patient, a 22 years old, was evaluated in an endocrinoloy clinic to exclude Ullrich-Turner syndrome because of amenorrhoea and bone aches.
    mos46,XX(48%)/47,XX,+18(42%)/46,XX,-18,+idic(18q)(10%).
    Index Terms: Mild phenotype
  • Constantine G, Anderson J, Fowlie A: Umbilical cord pseudocyst in trisomy 18. Prenat. Diag. 10:274-275, 1990. [PubMed: 2195499]
    Index Terms: Umbilical cord pseudocyst
  • Cowles T A, Elder F F B, Taylor S.: Identification of abnormal chromosomal complement in formalin-fixed, paraffin-embedded placental tissue. Prenat. Diag. 15:21-26, 1995. [PubMed: 7739993]
    An useful technique.
    Index Terms: FISH ... Paraffin-embedded tissue
  • Crandall B F, Ebbin A J: Trisomy 18 and 21 in two siblings. Clin. Genet. 4:517-519, 1973. [PubMed: 4274618]
    47,XX,+18.&47,XX,+21.
  • Crippa L, Marcoz J P, Klein D, Bourquin D: Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? J. Genet. Hum. 26:145-160, 1978. [PubMed: 670942]
    In a 16 1/2 year old girl, evidence of mosaicism was found in skin fibroblast cultures, 87% of cells were trisomic and in lymphocyte cultures all cells were trisomic.
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    47,XX,+18.
    Nine cases were reported, all had numerous other associated malformations.
  • Dailey T, Dale B, Cohen J, Munne S.: Association between nondisjunction and maternal age in meiosis-II human oocytes. AJHG 59:176-184, 1996. [PMC free article: PMC1915131] [PubMed: 8659524]
    Munn+¬ S, Magli C, Bahce M, Fung J, Legator M, Morrison L, Cohert J, Gianaroli L.: Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prenat. Diag. 18:1459-1466, 1998. [PubMed: 9949446]
    Munne S, Grifo J, Cohen J, Weier H U G: Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study. AJHG 55:150-159, 1994. [PMC free article: PMC1918237] [PubMed: 8023843]
    Munne S, Lee A, Rosenwaks Z, Grifo J, Cohen J: Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum. Reprod. 8:2185-2191, 1993. [PubMed: 8150922]
    Index Terms: Embryos ... preimplantation
  • Dasouki M, Barr M, Jr: Trisomy 18 and Hepatic neoplasia. AJMG 27:203-205, 1987. [PubMed: 3037903]
    Patient died after 2 9/12 years.
    47,XX,+18.
  • David T J, Jones A J: Trisomy 21 and trisomy 18 in half-siblings. Humangenetik 27:351-352, 1975. [PubMed: 125225]
    Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18)
  • Dennis N R, Cockwell A: Clinical management of trisomy 18. Lancet 339:1235, 1992. [PubMed: 1349970]
    Index Terms: Clinical management
  • De Veciana M, Major C A, Porto M: Prediction of an abnormal karyotype in fetuses with omphalocele Prenat. Diag. 14:487-492, 1994. [PubMed: 7524058]
    40 consecutive fetuses were studied.
    47,XX or XY,+18.
    Index Terms: Omphalocele
  • Dombrowski M P, Berry S M, Isada N B, Jones T B, Evans M I: Abnormal second-trimester ultrasounds: an indication for karyotype. Fetal Diag. Ther. 8:10-14, 1993. [PubMed: 8452645]
    2,823 singleton, viable fetuses were studied.
    Ten cases of trisomy 18 were found to be associated with cardiac (3), hydrocephalus (5), gastrointestinal (3), limb (3), renal (2), and spinal (2) anomalies.
    Index Terms: Hydrocephalus
  • Donaldson S J F, Wright C A, de Ravel T J L.: Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis. Prenat. Diag. 19:580-582, 1999. [PubMed: 10416978]
    47,XY,+18
    Polyhydramnios and anencephaly was detected at 25 weeks in fetus of a 42 year old woman.
    Index Terms: Total cranio-rachischisis,Thoraco-abdominoschisis
  • Donnenfeld A E, Campbell T J, Byers J, Librizzi R J, Weiner S: Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia. Am. J. Obstet. Gynecol. 169:1017-1021, 1993. [PubMed: 8238112]
    Fetus Nos. 3, 5, and 6.
    47,XX,+18.
    Hydramnios and cardiac defect was detected.
    Index Terms: Hydramnios
  • Edwards J H, Harnden D G, Cameron A H, Crosse V M, Wolff O H: A new trisomic syndrome. Lancet 1:787-790, 1960. [PubMed: 13819419]
    47,XX,+18.,E1 or 18 trisomy, also called ''Edwards syndrome,'' was first described in this report. The extra chromosome was later interpreted as No. 18 instead of No. 17.
    Index Terms: Edwards syndrome (trisomy 18)
  • Eggermann T, Nothen M M, Eiben B, Hofmann D, Hinkel K, Fimmers R, Schwanitz G.: Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum. Genet. 97: 218-223, 1996. [PubMed: 8566957]
    62 cases were studied.
    In 56 families the error was maternal, 11 at MI and 17 at MII; 6 were paternally derived cases and two originated from a meiotic error.
    Index Terms: Nondisjunction
  • Eggermann Th, Nothen M M, Propping P, Schwanitz G: Molecular diagnosis of trisomy 18 using DNA recovered from paraffin embedded tissues and possible implications for genetic counselling. Ann. Genet. 36:214-216, 1993. [PubMed: 8166427]
    Nothen M M, Eggermann T, Erdmann J, Eiben B, Hofmann D, Propping P, Schwanitz G: Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome). Hum. Genet. 92:347-349, 1993. [PubMed: 8225314]
    Ramesh K H, Verma R S.: Parental origin of the extra chromosome 18 in Edwards syndrome. Ann. Genet. 39:110-112, 1996. [PubMed: 8766143]
    Data on 171 cases was compiled. 93% cases are due to maternal nondisjunction errors (1996).
    30 families were studied.
    26 (86.7%) were maternal in origin and 4 (13.3%) were paternal.
    Index Terms: Paraffin embedded tissues
  • Evans D G R, Evans I D, Donnai D, Lindenbaum R H: Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. J. Med. Genet. 27:720-721, 1990. [PMC free article: PMC1017268] [PubMed: 2277391]
    Three cases are presented with Ankyloblepharon filiform adnatum (incomplete fusion of one or both eyelids by bands of elastic tissue).
    47,XX,+18.
    MIM#: 106250
    Index Terms: Ankyloblepharon filiform adnatum
  • Extermann P, Nicolini U, Rodeck C H: Acid-base and hematologic values at blood sampling in the evaluation of trisomic fetuses: a case-control study. Obstet. Gynecol. 81:958-962, 1993. [PubMed: 8497363]
    There is no specific association of acid-base and hematologic values that is diagnostic of chromosomal abnormality at fetal blood sampling.
    Index Terms: Acid-base,Hematologic
  • Farina A, Sekizawa A, Ralston S J, D''Alton M E, Bianchi D W.: Latent class analysis applied to patterns of fetal sonographic abnormalities: definition of phenotypes associated with aneuploidy. Prenat. Diag. 19:840-845, 1999. [PubMed: 10521842]
    Fourteen cases were studied.
    Among 40 fetal malformations and/or sonographic markers, the most important findings in generating specific karyotypic groups were cystic hygroma (class 1), duodenal atresia (class 2), holoprosencephaly (class3), and omphalocele (class 4), respectively. Accuracy of the classification was 93 per cent for trisomy 18.
    Index Terms: Latent class analysis
  • Ferencz C, Neill C A, Boughman J A, Rubin J D, Brenner J I, Perry L W: Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J. Ped. 114:79-86, 1989. [PubMed: 2521249]
    Index Terms: Cardiovascular
  • Findlay I, Toth T, Matthews P, Marton T, Quirke P, Papp Z.: Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports. Clin. Genet. 53:92-95, 1998. [PubMed: 9611067]
  • Fisher J M, Harvey J F, Lindenbaum R H, Boyd P A, Jacobs P A: Molecular studies of trisomy 18. AJHG 52:1139-1144, 1993. [PMC free article: PMC1682277] [PubMed: 8503446]
    In the 1993 study, 50 cases were studied.
    Maternal origin of the additional chromosome was determined in 48 cases and the remaining two were paternal. Seven cases appeared to be the result of a postzygotic error.
    In the 1995 study, 63 cases were studied.
    47,XX and XY,+18.
    In 2 cases the additional chromosome was paternal (post zygotic mitotic error, PZM). 16/54 cases were of maternal error with an error at MI, 35 at MII, and 3 at PZM.
    Index Terms: Nondisjunction
  • Flannery D B, Kahler S G: Neural tube defects in trisomy 18. Prenat. Diag. 6:97-99, 1986. [PubMed: 3703824]
  • Fox J E, Gloster E S, Mirchandani R: Trisomy 18 with Cantrell pentalogy in a stillborn infant. AJMG 31:391-394, 1988. [PubMed: 3232702]
    47,XX,+18.
    Index Terms: Cantrell pentalogy
  • Fryns J P, Lambrechts A, Jansseune H, van den Berghe H: Moderate mental retardation and atypical phenotype in mosaic 18 trisomy. Ann. Genet. 22:30-32, 1979.
    Patient Z.M. was a 5-year-old boy with pronounced growth retardation.
  • Fulton A B, Craft J L, Zakov Z N, Howard R O, Albert D M: Retinal anomalies in trisomy 18. Graefes Arch. klin. exp. Ophthal. 213:195-205, 1980. [PubMed: 6903110]
    In the posterior retina, transmission and scanning electron microscopic examinations revealed cytological details characteristic of immature neural retinas. The posterior retinal pigment epithelium had a paucity of mature melanosomes and resembled human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests that pigmentation plays a role in the control of the maturation of the neural retina.
  • Gersdorf E, Utermann B, Utermann G: Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage. Hum. Genet. 84:298-299, 1990. [PubMed: 2303251]
    Patient K.A.
    mos46,XX[10(12%)]/47,XX,+18[90(88%)].
  • Ghidini A, Strobelt N, Locatelli A, mariani E, Piccoli M G, Vergani P.: Isolated fetal choroid plexus cysts: role of ultrasonography in establishment of the risk of trisomy 18. Am. J. Obstet. Gynecol. 182:972-977, 2000. [PubMed: 10764483]
    The authors conclude that the presence of isolated second-trimester choroid plexus cysts increases the base risk of trisomy 18 by a factor of 7.09. The prevalence was 6.7% (13/194).
    Index Terms: Cysts isolated fetal choroid plexus
  • Golbus M S, Hall B D, Creasy R K: Prenatal diagnosis of congenital anomalies in an intrauterine growth retarded fetus. Hum. Genet. 32:349-352, 1976. [PubMed: 59687]
    It is suggested that when severe fetal growth retardation is detected early in the antepartum course, amniotic fluid alpha-fetoproptein and amniotic fluid cell chromosome studies be done to determine if congenital anomalies may be an etiological factor.
    47,XY,+18.
    Index Terms: AFP in ES (18+)
  • Goldstein H, Nielsen K G: Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark. Clin. Genet. 34:366-372, 1988. [PubMed: 3233784]
  • Graham D A, Jewitt M M, Fitzgerald P H: Trisomy 18 mosaicism with complete peripheral lymphocyte trisomy and normal intelligence. Clin. Genet. 41:36-38, 1992. [PubMed: 1633645]
    Index Terms: Intelligence and Mosaicism
  • Gray D L, Winborn R C, Suessen T L, Crane J P.: Is genetic amniocentesis warranted when isolated choroid plexus cysts are found? Prenat. Diag. 16:983-990, 1996. [PubMed: 8953631]
    The authors conclude ''the discovery of choroid plexus cysts in otherwise normal fetuses in the late second trimester does not by itself justify the risks of genetic amniocentesis.''

    Kilby M, Whittle M, North L, McHugo J.: Isolated choroid plexus cysts and aneuploidy. Prenat. Diag. 17:785, 1997. [PubMed: 9267906]
    Index Terms: Choroid plexus cysts
  • Greve G, Waaler P E, Rosendahl K: Low frequency mosaicism of normal cells in a 16-year-old girl with trisomy 18. Clin. Genet. 43:83-87, 1993. [PubMed: 8448907]
    mos46,XX[4%]/47,XX,+18[96%]-fibroblasts.,47,XX,+18-at birth in lymphocytes[30 cells].
    Index Terms: Mosaicism in ES (18+)
  • Gullotta F, Rehder H, Gropp A: Descriptive neuropathology of chromosomal disorders in man. Hum. Genet. 57:337-344, 1981. [PubMed: 6456980]
  • Halliday J, Lumley J, Bankier A: Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks'' gestational age. Prenat. Diag. 14:689-697, 1994. [PubMed: 7991511]
  • Hanna J S, Neu R L, Lockwood D H.: Prenatal cytogenetic results from cases referred for different types of abnormal ultrasound findings. Prenat. Diag. 16:109-115, 1996. [PubMed: 8650120]
    Hanna et al studied 118 490 cases. 3177 cases referred because of at least one structural abnormality, and 494 (15.5 %) of the cases had an abnormal karyotype. Risk figures are given.

    Rizzo N, Pittalis M C, Pilu G, Perolo A, Banzi C, Visentin A, Bovicelli L.: Distribution of abnormal karyotypes among malformed fetuses detected by ultrasound throughout gestation. Prenat. Diag. 16:159-163, 1996. [PubMed: 8650127]
    Rizzo et al report on 755 fetuses. The incidence of abnormal karyotypes, in 2nd and 3rd trimesters, was 15.7 and 17.5 respectively.
    Index Terms: Acrania,bladder anomalies,choroid plexus cysts,cystic hygroma,diaphragmatic hernia,echogenic bowel,encephalocele,hypoplastic left heart,gastroschisis,hydrocephaly,hydronephrosis,hydrops,meningomyelocele,nuchal fold/thickening,omphalocele,polyhydramnios,stomach (absent),stomach (malformed),tracheal-oesophageal fistula,two-vessel cord
  • Harrison K J, Barrett I J, Lomax B L, Kuchinka B D, Kalousek D K: Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis. Hum. Genet. 92:353-358, 1993. [PubMed: 8225315]
    Kalousek D K, Barrett I J, McGillivray B C: Placental mosaicism and intrauterine survival of trisomies 13 and 18. AJHG 44:338-343, 1989. [PMC free article: PMC1715446] [PubMed: 2916579]
    14 cases were studied.
    It is suggested that direct preparation is unreliable for prenatal diagnosis of these trisomies on chorionic villi sampling and that long-term villous culture should be used.
    Chromosomal Aneuploidy: 13+,18+
    Index Terms: Placenta ... mosaicism
  • Hassold T J, Matsuyama A, Newlands I M, Matsuura J S, Jacobs P A, Manuel B, Tsuei J: A cytogenetic study of spontaneous abortion in Hawaii. Ann. Hum. Genet. 41:443-454, 1978. [PubMed: 655633]
    Index Terms: ES (18+),Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Hill L M, Macpherson T, Rivello D, Peterson C: The spontaneous resolution of cystic hygromas and early fetal growth delay in fetuses with trisomy 18. Prenat. Diag. 11:673-677, 1991. [PubMed: 1788172]
    Case 1: CC.
    Case 2: CK.
    Index Terms: Cystic hygroma
  • Hodes M E, Cole J, Palmer C G, Reed T: Clinical experience with trisomies 18 and 13. J. Med. Genet. 15:48-60, 1978. [PMC free article: PMC1012823] [PubMed: 637922]
    For comments see entry under 13+.
    Index Terms: Patau syndrome (13+),ES (18+)
  • Holmgren G, Jagell S, Lagerkvist B, Nordenson I: A pair of siblings with diastrophic dysplasia and E trisomy mosaicism. Hum. Hered. 34:266-268, 1984. [PubMed: 6479995]
    MIM#: 222600
    Index Terms: Diastrophic dysplasia & Edwards syndrome (trisomy 18)
  • Huang Y-F, Chang C-H, Yu C-H, Chang F-M.: Prenatal diagnosis of radial agenesis in trisomy 18 using three-dimensional ultrasound. Prenat. Diag. 24:923-924, 2004. [PubMed: 15565598]
    Index Terms: Three dimensional ultrasound
  • Hume R F, Jr., Drugan A, Reichler A, Lampinen J, Martin L S, Johnson M P, Evans M I.: Aneuploidy among prenatally detected neural tube defects. AJMG 61:171-173, 1996. [PubMed: 8669447]
    Index Terms: Neural tube defects
  • Hunter A G W, Ray M, Langston C: Cebocephaly in an infant with trisomy 18. J. Med. Genet. 14:291-292, 1977. [PMC free article: PMC1013590] [PubMed: 411936]
    It is considered that cebocephaly and other related phenotypic characteristics are under represented in the descriptions of Edwards syndrome for lack of chromosome studies in patients with these characteristics.
    Index Terms: Cebocephaly-holoprosencephaly,Edwards syndrome (trisomy 18)
  • Ishikawa S, Gilbert E F, Meisner L F, Gutcher G, Herrmann J: Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome. Europ. J. Ped. 130:59-64, 1979. [PubMed: 759183]
    47,XY,+18.
    Patient M.B. was born at 33 weeks of gestation to a 38-year-old mother, and died after 5 days.
    Index Terms: Aorta ... coarctation,Edwards syndrome (trisomy 18),Mitral valve parachute,Omphalocele,Radius aplasia
  • Jauniaux E, Donner C, Thomas C, Francotte J, Rodesch F, Avni F E: Umbilical cord pseudocyst in trisomy 18. Prenat. Diag. 8:557-563, 1988. [PubMed: 3060870]
    Case 1, Mrs. V. D.
    Case 2, Mrs. Y. Z.
    Index Terms: Umbilical cord pseudocyst
  • Jenkins M B, Kriel R L, Boyd L, Barnwell A: Trisomy 21 with 47,+18 lymphocyte cell line: double mitotic nondisjunction. J. Med. Genet. 15:395-398, 1978. [PMC free article: PMC1013739] [PubMed: 153975]
    47,XX,+21/47,XX,+18(blood).&47,XX,+21(skin).&An interesting report of double nondisjunction.
    Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18)
  • Johnson T R B, Corson V L, Payne P A, Stetten G: Late prenatal diagnosis of fetal trisomy 18 associated with severe intrauterine growth retardation. Johns Hopk. Med. J. 151:242-245, 1982. [PubMed: 7143876]
    Mother was 29 years old; amniocentesis was performed at 35 weeks; and a 1600g female infant died at birth.
    47,XX,+18.
  • Kalache K D, Romero R, Conoscenti G, Qureshi F, Jacques S M, Chaiworapongsa T, Treadwell M, Johnson A.: Prenatal diagnosis of dilated coronary sinus with persistent left superior vena cava in a fetus with trisomy 18. Prenat. Diag. 23:108-110, 2003. [PubMed: 12575015]
    Index Terms: Dilated coronary sinus with persistent left superior vena cava
  • Kelly M, Robinson B W, Moore J W.: Trisomy 18 in a 20-year-old woman. AJMG DOI=10.1002/ajmg.10638; 112:397-399, 2002. [PubMed: 12376944]
    Lebel R R, Roberson J, Van Dyke D L.: Correspondence regarding trisomy 18. AJMG DOI=10.1002/ajmg.a.31170; 140A: 964-965, 2006. [PubMed: 16528740]
    Shanske A L.: Correspondence - Trisomy 18 in a second 20-year-old woman. AJMG 10.1002/ajmg.a.31171, 2006. [PubMed: 16575893]
    Van Dyke and his colleagues also report on a patient who lived for 27 years and 5 months. They discuss the implications of care and counseling.
    It is important that authors report and review cases appropriately since this kind of information about survival and management is critical for the families in taking decisions (DSB).
    47,XX,+18[13]
    Tetralogy of Fallot was diagnosed in the newborn period. The 20 year old was seen in the cardiology clinic.
  • Kennedy D, Chitayat D, Winsor E J T, Silver M, Toi A.: Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. AJMG 77:317-321, 1998. [PubMed: 9600743]
    Cases 1-4:
    47,XX or XY,+18
    Meningomyelocele along with other anomalies.
    Index Terms: Meningomyelocele,NTD
  • Kjaer I, Keeling J, Hansen B F.: Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. AJMG 65:332-336, 1996. [PubMed: 8923945]
    It is recommended that axial skeletal radiography be included in autopsies.

    Kjaer I, Keeling J W, Reintoft I, Hjalgrim H, Nolting D, Hansen B F.: Pituitary gland and sella turcica in human trisomy 18 fetuses. AJMG 76:87-92, 1998. [PubMed: 9508072]
    18 fetuses were studied.
    The sella turcica was malformed.
    Index Terms: Sella turcica,skeletal anomalies
  • Kohn G, Shohat M: Trisomy 18 mosaicism in an adult with normal intelligence. AJMG 26:929-931, 1987. [PubMed: 3591837]
    A 30 year old woman was studied because of 3 spontaneous abortions following the birth of a normal son. She had led a normal life.
    Blood-mos46,XX(82%)/47,XX,+18(18%).&Skin-mos46,XX(98%)/47,XX,+18(2%).
    Index Terms: Edwards syndrome (trisomy 18),Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Kondoh T, Tonoki H, Matsumoto T, Tsukahara M, Niikawa N: Origin of the extra chromosome in trisomy 18. A study of five patients using a restriction fragment length polymorphism. Hum. Genet. 79:377-378, 1988. [PubMed: 2900802]
    Maternal meiotic errors are more likely in this situation.
  • Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y.: Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. AJMG DOI=10.1002/ajmg.a.31175; 140A: 937-944, 2006. [PubMed: 16528744]
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
  • Kultursay N, Koprubasi F, Kutukculer N: Video display terminal - the risk of trisomy 18. Clin. Genet. 45:270-271, 1994. [PubMed: 8076415]
    Rodriguez-Pinilla E, Martinez-Frias M L.: Video display terminals: risk of trisomy 18? Clin. Genet. 47:335-336, 1995. [PubMed: 7554373]
    The Spanish authors, on the basis of a epidemiologically conducted study do not support the idea that exposure to video terminals is a risk factor for trisomy.
    Baby had 47,XY,+18 karyotype and mother was computer technician]
    Index Terms: Video display terminal
  • Kupke K G, Muller U: Parental origin of the extra chromosome in trisomy 18. AJHG 45:599-605, 1989. [PMC free article: PMC1683505] [PubMed: 2577470]
  • Lambert J C, Ferrari M, Donzeau M, Ayraud N, Chiaramello W, Mariani R: Arthrogryposis-like signs in trisomy 18. Hum. Genet. 57:145-147, 1981. [PubMed: 7228025]
    Index Terms: Arthrogryposis,Edwards syndrome (trisomy 18)
  • Lam W W K, Kirk J, Manning N, Readrdon W, Kelley R I, FitzPatrick D.: Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18. Eirop. J. Med. Genet. DOI=10.1016 /j.ejmg.2005.05.011, 2005. [PubMed: 16530716]
    Index Terms: Cholesterol synthesis
  • Le Marec B, Senecal J: Sex-ratio et age maternel dans la trisomie 18. J. Genet. Hum. 23:119-120, 1975. [PubMed: 1214141]
    Fewer males (sex ratio 0.24) and increased maternal age was observed.
  • Lim A S T, Su L C.: Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl. AJMG 76:365-366, 1998. [PubMed: 9545104]
    Patient was 31 years old.
    Blood=mos47,XY,+18[23]/46,XY[9].,Blood=mos47,XY,+18[21]/46,XY[5].,Fibroblasts=46,XY.ish[3% trisomic in 260 cells].
    Two children were born after IVF, ICSI and SUZI procedures.
    Sperm analyses did not show significant changes!
  • Limongelli G, Paciileo G, Melis D, Calabro P, Digilio M C, Sarkozy A.: Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. AJMG Part A: 146A: 327-329, 12008. [PubMed: 18203191]
    Index Terms: Hypertrophy cardiomyopathy in 18+
  • Lin H-Y, Lin S-P, Chen Y-J, Hung H-Y, Kao H-A, Hsu C-H, Chen M-R, Chang J-H, Ho C-S, Huang F-Y, Shyur S-D, Lin D-S, Lee H-C.: Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. AJMG DOI=10.1002/ajmg.a.31173; 140A:945-951, 2006. [PubMed: 16528742]
    Index Terms: Survival of 18+ in Taipei
  • Loughna S, Bennett P, Moore G.: Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses. Hum. Genet. 95:89-95, 1995. [PubMed: 7814033]
    Seven fetuses were studied.
    The mRNA level of TTR (transthyretin) in 10 to 14-week intestine was the same in trisomy 18 and control tissues. However, overexpression was seen for both trisomy 18 liver and intestine at 20-23 weeks. TTR transports both thyroxine and retinol and is therefore important for normal fetal development.
    MIM#: 176300
    Index Terms: Transthyretin
  • Luciani J M, Devictor-Vuillet M, Boue J, Morazzani M R, Boue A, Stahl A: Study of meiosis in female trisomy 18 fetus. Behaviour of the supernumerary chromosome and identification of the 18 bivalent. Ann. Genet. 21:215-218, 1978. [PubMed: 314257]
    Associations of the three No. 18 chromosomes were studied in a trisomy 18 fetus. The three classes of associations observed were those found in other trisomic organisms. Trivalent, presenting an important asynaptic region, and bivalent accompanied by a univalent. In addition, the sequence was established of chromomeres, the number of which varied from 18 to 23 depending on the degree of chromosome contraction. In elongated pachytene oocyte bivalents each G-band of mitotic metaphase chromosomes could be subdivided into several sub-bands.
    Index Terms: Asynapsis & trisomy 18
  • Lynch L, Berkowitz R L: First trimester growth delay in trisomy 18. Am. J. Perinat. 6:237-239, 1989. [PubMed: 2712922]
    Index Terms: Intrauterine growth delay
  • Makrydimas G, Plachouras N, Thilaganathan B, Nicolaides K H: Abnormal immunological development in fetuses with trisomy 18. Prenat. Diag. 14:239-241, 1994. [PubMed: 8066033]
  • Mamlok V, Nichols M, Lockhart L H, Mamlok R: Trisomy 18 and hepatoblastoma. AJMG 33:125-126, 1989. [PubMed: 2546426]
    Index Terms: Hepatoblastoma
  • Marion R W, Chitayat D, Hutcheon G, Neidich J A, Zackai E H, Singer L P, Warman M: Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. J. Ped. 113:45-48, 1988. [PubMed: 3385528]
  • Mart+¡nez-Fr+¡as M L, Villa A, Asero de Pablo R, Ayala A, Calvo M J, Bermejo E, Rodr+¡guez L.: Limb deficiencies in infants with trisomy 13. AJMG 93:339-341, 2000. [PubMed: 10946363]
    Rogers R C: Trisomy 18 with unilateral atypical ectrodactyly. AJMG 49:125-126, 1994. [PubMed: 8172239]
    Urioste M, Martinez-Frias M L, Aparicio P.: Ectrodactyly in trisomy 13 syndrome. AJMG 53:390-392, 1994. [PubMed: 7864055]
    Mart+¡nez-Frias et al conclude that limb deficiencies could be considered as one of the defects that constitute the spectrum of anomalies observed in infants with trisomy 13.
    Index Terms: Ectrodactyly
  • Martinez J M, Antolin E, Borrell A, Puerto B, Casals E, Ojuel J, Fortuny A.: Umbilical Doppler velocimetry in fetuses with trisomy 18 at 10-18 weeks'' gestation. Prenat. Diag. 17:319-322, 1997. [PubMed: 9160383]
  • Menashi M, Ornoy A, Cohen M M: Anencephaly in trisomy 18: related or unrelated? Teratology 15:325-328, 1977. [PubMed: 882920]
    A fetus of 20 to 21 weeks with features of trisomy 18 syndrome along with left diaphragmatic hernia, anencephaly and aplasia of the squamous part of occipital bone. Since anencephaly has never been described in this syndrome; it may be that this finding is unrelated and resulted from secondary destruction of the neural tube.
    Index Terms: Edwards syndrome (trisomy 18),Hernia ... diaphragmatic,Occiput ... bone aplasia
  • Mendez H M M, Paskulin G A, Mattos A G: Trisomy 18 mosaicism with few stigmata including macrogenitalia. AJMG 26:229-230, 1987. [PubMed: 3812568]
    Mother was 52 years old.
    Patient was a mildly retarded 16 year old man.
    Two out of 32 cells showed trisomy 18 makeup.
  • Merrild U, Schioler V, Christensen F, Wolny E, Edeling C J: Anencephaly in trisomy 18 associated with elevated alpha-1-fetoprotein in amniotic fluid. Hum. Genet. 45:85-88, 1978. [PubMed: 83284]
    Index Terms: Alpha-feto protein,Edwards syndrome (trisomy 18)
  • Miglets A W, Schuller D, Ruppert E S, Lim D J: Trisomy 18. A temporal bone report. Arch. Otolaryngol. 102:433-437, 1975. [PubMed: 1080047]
    47,XY,+18.&Aside from the many abnormalities described previously the following findings were described: complete bony atresia of the external canal, an aberrant tensor tympani muscle that did not insert into the malleus but rather attached to a dehiscent area in the Fallopian canal, wide short utricular and saccular ducts, and a widely patent cochlear aqueduct.
    Index Terms: Bony atresia,Edwards syndrome (trisomy 18)
  • Moore C A, Harmon J P, Padilla L M, Castro V B, Weaver D D: Neural tube defects and omphalocele in trisomy 18. Clin. Genet. 34:98-103, 1988. [PubMed: 3191615]
    In 85 patients the incidence of neural tube defects was 7.0 % and for omphalocele it was 5.9 %.
    Index Terms: Omphalocele,Neural tube defects
  • Moore G E, Ruangvytilert P, Chatzimeletiou K, Bell G, Chen C-K, Johnson P, Harper J C.: Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH. Eur. J. Hum. Genet. 8:223-228, 2000. [PubMed: 10780789]
    There was no clear association between the limited mosaicism seen and severity of phenotype. Hence tissue-specific mosaicism was not likely to be responsible for potential survival to birth.
    10 cases were studied of 11-20 weeks gestation.
  • Morallo L M, Rosenblum H, Esterly K L, Johnson W D, Storlazzi J J, Narvaez A C, Borgaonkar D S: Trisomy 18 (Edwards syndrome) in Delaware. Del. Med. J. 55:27-30, 1983. [PubMed: 6840358]
    Index Terms: Edwards syndrome (trisomy 18) in Delaware
  • Mulder A F P, van Eyck J, Groenendaal F, Wladimiroff J W: Trisomy 18 in monozygotic twins. Hum. Genet. 83:300-301, 1989. [PubMed: 2793175]
    First such case.
    Index Terms: Monozygotic twins
  • Muller L M, de Jong G: Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. AJMG 25:119-129, 1986. [PubMed: 3541607]
    Four cases are discussed, two each of the two syndromes, and all were evaluated for polyhydramnios in the third trimester.
    47,XY,+18.
    MIM#: 208150
    Index Terms: Edwards syndrome (trisomy 18),Polyhydramnios
  • Murano I, Ohashi H, Tsukahara M, Tonoki H, Okino F, Atsumi M, Kajii T: Pigmentary dysplasias in long survivors with mosaic trisomy 18: report of two cases. Clin. Genet. 39:68-74, 1991. [PubMed: 1997220]
    Ohashi H, Tsukahara M, Murano I, Naritomi K, Nishioka K, Miyake S, Kajii T: Pigemntary dysplasias and chromosomal mosaicism: report of 9 cases. AJMG 43:716-721, 1992. [PubMed: 1621763]
    Patient K.S. was 19 years old.
    mos46,XX/47,XX,+18.
    Linear hypopigmented area on the right chest; V-shaped hypopigmented patterns on the back.
    Patient K.Y. was 19 7/12 years old.
    mos46,XY/47,XY,+18.
    Dark right side of the body with sharp demarcation at the midline; linear hypopigmented areas on the posterior surface of the right leg.
    Index Terms: Pigmentary dysplasia
  • Naef R W, Bombard A T, Pruitt L, Rigdon D T, Bartholomew D W: Fetal ultrasound abnormalities and risk for chromosome aberrations: fetal ascites, pleural effusion and IUGR associated with trisomy 18. Applied Cytogenetics 17:7-9, 1991.
    47,XX,+18.
    Index Terms: Pleural effusion,Fetal ascites
  • Naguib K K, Al-Awadi S A, Moussa M A A, Bastaki L, Gouda S, Redha M A, Mustafa F, Tayel S M, Abulhassan S A, Murthy D S K.: Trisomy 18 in Kuwait. Int. J. Epidemiol. 28:711-716, 1999. [PubMed: 10480700]
    118 children with trisomy 18 were found during 1980-1997.
    Index Terms: Kuwait
  • Nakamura Y, Hashimoto T, Sasaguri Y, Yamana K, Tanaka S, Morodomi T, Murakami T, Maehara F, Nakashima T, Fukuda S, Nakashima H: Brain anomalies found in 18 trisomy: CT scanning, morphologic and morphometric study. Clin. Neuropath. 5:47-52, 1986. [PubMed: 3708952]
    Nine cases were studied.
  • Namba M, Nakatsuka S, Etoh H, Katakoa N, Kimoto T: Fibroblasts of two patients with trisomy 18 show 1.5-fold increase in peptidase A activity over normal human diploid fibroblasts. Clin. Genet. 34:161-164, 1988. [PubMed: 3052940]
    Two trisomy 18 patient''s fibroblasts were examined.
  • Nicolaides K H, Snijders R J M, Gosden C M, Berry C, Campbell S: Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 340:704-707, 1992. [PubMed: 1355807]
    Spencer K, Crossley J A, Green K, Worthington D J, Brownbill K, Aitken D A.: Second trimester levels of pregnancy associated plasma protein-A in cases of trisomy 18. Prenat. Diag. 19:1127-1134, 1999. [PubMed: 10590430]
    Tul, N, Spencer K, Noble P, Chan C, Nicolaides K.: Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat. Diag. 19:1035-1042, 1999. [PubMed: 10589055]
    Nicolaides et al studied 2086 patients, 83 cases were found in a total of 301 abnormal karyotypes.
    Tul et al concluded ''that specific trisomy 18 risks should be part of developing risk algorithms combining maternal serum biochemistry and nuchal translucency for use in first trimester screening alongside those for trisomy 21''.
    Spencer et al concluded that combining free beta-hCG and PAPP-A or all three markers (MSAFP, hCG, and PAPP-A) with maternal age would have the ability to detect 74% of cases at a 0.5% false positive rate (or 64% at a 0.1% false positive rate).
  • Niedrist D, Riegel M, Achermann J, Schinzel A.: Survival with trisomy 18 - data from Switzerland. AJMG DOI=10.1002/ajmg.a.31172; 140A: 952-959, 2006. [PubMed: 16528741]
    Index Terms: Survival in 18+
  • Nielsen J, Holm V, Haahr J: Prevalence of Edwards syndrome. Clustering or seasonal variation? Humangenetik 26:113-116, 1975. [PubMed: 1112599]
    In two Danish counties the incidence was found to be 1 per 4857 newborn children in 34000 births during 1967 to 1973.
  • Ogita S, Hasegawa H, Matsumoto M, Kamei T, Shimamoto T, Ohmishi M, Sugawa T: Prenatal diagnosis of E trisomy syndrome by fetography. Obst. Gynecol. 43:887-892, 1974. [PubMed: 4597791]
    47,XY,+18.
    Index Terms: Alpha-feto protein,Edwards syndrome (trisomy 18)
  • Ozturk M, Milunsky A, Brambati B, Sachs E S, Miller S L, Wands J R: Abnormal maternal serum levels of human chorionic gonadotropin free subunits in trisomy 18. AJMG 36:480-483, 1990. [PubMed: 2389806]
    A low level may indicate a higher risk.
    Index Terms: Gonadotropin
  • Paladini D, Calabro R, Palmieri S, D''Andrea T: Prenatal diagnosis of congenital heart disease and fetal karyotyping. Obstet. Gynecol. 81:679-682, 1993. [PubMed: 8469453]
    Index Terms: Congenital heart disease
  • Palomaki G E, Haddow J E, Knight G J, Wald N J, Kennard A, Canick J A, Saller D N, Jr, Blitzer M G, Dickerman L H, Fisher R, Hansmann D, Hansmann M, Luthy D A, Summers A M, Wyatt P. : Risk-based prenatal screening for trisomy 18 using alpha-fetoprotein, unconjugated oestriol and human chorionic gonadotropin. Prenat. Diag. 15:713-723, 1995. [PubMed: 7479589]
    The strongest individual predictor of risk for trisomy 18 was uE3, followed by hCG, AFP, and maternal age, in that order.

    Palomaki G E, Haddow J E.: Prenatal serum markers and trisomy 18. Prenat. Diag. 16:477-478, 1996.
    Reynolds T M, Wierzbicki A.: Prenatal screening for trisomy 18. Prenat. Diag. 16:475-476, 1996. [PubMed: 8844010]
  • Palomaki G E, Knight G J, Haddow J E, Canick J A, Saller D N, Panizza D S: Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein, unconjugated oestriol, and human chorionic gonadotropin. Prenat. Diag. 12:925-930, 1992. [PubMed: 1283634]
    Index Terms: Unconjugated oestriol,MSAFP,hCG
  • Paris J J, Weiss A H, Soifer S.: Ethical issues in the use of life-prolonging interventions for an infant with trisomy 18. J. Perinatol. 12:366-369, 1992. [PubMed: 1282542]
    47,XX,+18
    The 7 week old patient had her myelomeningocele repaired, a ventriculoperitoneal shunt and a endotracheal tube placement done, but died 30 hours after extubation.
    Index Terms: Ethical issues in 18+
  • Parker M J, Budd J L S, Draper E S, Young I D.: Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat. Diag. 23:856-860, 2003. [PubMed: 14558033]
    ''Around 12% of propspective parents of a child with trisomy 13 or 18 choose to continue rather than terminate the pregnancy!''
  • Park V M, Tharapel A T, Elias S: Use of fluorescence in situ hybridization to detect trisomy 18 in the direct preparation of a chorionic villus biopsy. Prenat. Diag. 12:974-975, 1992. [PubMed: 1494552]
  • Pettersen J C, Bersu E T: A comparison of the anatomical variations found in trisomies 13, 18 and 21. In Persaud, T V N, Editor: Genetic disorders, syndromology and prenatal diagnosis. New York: Liss. 161-180, 1982.
    Pettersen J C, Bersu E T: Anatomical defects and variations due to aneuploidy. BD-OAS XXIII(No. 1):315-331, 1987. [PubMed: 2953395]
    Ramirez-Castro J L, Bersu E T: Anatomical analysis of the developmental effects of aneuploidy in man - The 18-trisomy syndrome: II. Anomalies of the upper and lower limbs. AJMG 2:285-306, 1978. [PubMed: 263444]
    Findings in 8 patients are described. Abnormalities included muscle variations concentrated along the radial margin of the forearm and hand, the absence of the definitive musculocutaneous nerve in all of the limbs, and reductions of the radial artery in four of the bodies. The characteristic flexion deformities of the fingers seem to be due to a displacement of the tendons of extensors digitorum and digiti minimi.
    Index Terms: Down syndrome (Trisomy 21),Edwards syndrome (trisomy 18),Flexion ... abnormalities,Muscles ... anomalies,Musculocutaneous nerve absence,Patau syndrome (trisomy 13),Radial artery ... reduction
  • Plessis G, LE Treust M, Lemaire F, Maugard T, Cau D.: Trisomy 18 mosaicism in a mildly retarded boy with postnatal overgrowth. Ann. Genet. 40:235-237, 1997. [PubMed: 9526621]
    Patient B.. was born in Rwanda and adopted by French parents.
    Blood=mos47,XY,+18[11]/46,XY[14].,Blood=mos47,XY,+18[23]/46,XY[78].ish 8/35 cells were trisomic.
    He had mild nonspecific dysmorphic features and at age 7 years of age, he begins to read and write with moderate assistance.
    Index Terms: Mosaicism
  • Punnett H H: Personal communication, 1973.
    47,XX,+18.
    Index Terms: Edwards syndrome (trisomy 18)
  • Ristic O, Fryns J P, Kleczkowska A, Van den Berghe H: On the recurrence risk of 18 trisomy. Ann. Genet. 34:47-48, 1991. [PubMed: 1952794]
    A family with two trisomy 18 conceptions is described.
  • Rizk B, Edwards R G, Nicolini U, Meagher S, Lamont R F: Edwards'' syndrome after the replacement of cryopreserved-thawed embryos. Fert. Ster. 55:208-210, 1991. [PubMed: 1986963]
    Index Terms: Cryopreserved embryo
  • Robinson M G, McCorquodale M M: Trisomy 18 and neurogenic neoplasia. J. Ped. 99:428-429, 1981. [PubMed: 6267240]
    Index Terms: Edwards syndrome (trisomy 18)
  • Rodis J F, Egan J F X, Craffey A, Ciarleglio L, Greenstein R M, Scorza W E: Calculated risk of chromosomal abnormalities in twin gestations. Obstet. Gynecol. 76:1037-1041, 1990. [PubMed: 2146537]
    47,XY,+18
    The abnormality was found in a pair of monozygotic twins.
    Index Terms: Twins ... monozygotic
  • Ross L J: Trisomy after pregestational contact with communicable disease. Am. J. Epidemiol. 113:529-532, 1981. [PubMed: 6452813]
    5/619 mothers delivered trisomy babies (4 with 21+ and 1 with 18+) and had been exposed five months before pregnancy.
    Index Terms: Edwards syndrome (trisomy 18)
  • Sancken U, Bartels I, Louwen F, Eiben B.: A retrospective evaluation of second-trimester serum screening for fetal trisomy 18: experience of two laboratories. Prenat. Diag. 19:947-954, 1999. [PubMed: 10521821]
    Staples A J, Robertson E F, Ranieri E, Ryall R G, Haan E A: A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome. AJHG 49:1025-1033, 1991. [PMC free article: PMC1683263] [PubMed: 1833973]
    Index Terms: Maternal ... serum screening
  • Satge D, Geneix A, Goburdhun J, Lasne-Desmet P, Rosenthal C, Arnaud R, Malet P.: A history of miscarriages and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women. Clin. Genet. 50:470-473, 1996. [PubMed: 9147875]
    Patient S.D.:
    Blood:mos47,XX,+18(4 cells)/46,XX(46 cells);,Fibroblasts:mos45,XX,-18(1 cell)/47,XX,+18(1 cell)/46,XX(98 cells)
    The 22 year old sought help for hypofertility after two miscarriages, and had slight macrogenia, prognathism, and temporal depilation.
    Index Terms: Prognathism
  • Savary J B, Deminatti M: Trisomie 18: diagnostic prenatal. La Nouv. Presse Med. 10:1149, 1981. [PubMed: 7220286]
    Mother was 44 years old; at 20 weeks termination of pregnancy was achieved.
    Index Terms: Edwards syndrome (trisomy 18)
  • Scarpa F J, Borgaonkar D S: A-V communis defect in trisomy E1 (17-18): report of a case. Bull. Johns Hop. Hosp. 118:395-401, 1966.
    JHH 1156035.
    47,XX,+18.
    Index Terms: A-V communis defect
  • Schlessel J S, Brown W T, Lysikiewicz A, Schiff R, Zaslav A L: Monozygotic twins with trisomy 18: a report of discordant phenotype. J. Med. Genet. 27:640-642, 1990. [PMC free article: PMC1017245] [PubMed: 2246775]
    Index Terms: Monozygotic twins
  • Schneider A S, Mennuti M T, Zackai E H: High Cesarean section rate in trisomy 18 births: A potential indication for late prenatal diagnosis. Am. J. Obst. Gynecol. 140:367-370, 1981. [PubMed: 7246651]
    Index Terms: Edwards syndrome (trisomy 18)
  • Schwanitz G, Schuler H, Gembruch U, Zerres K.: Chromosomal findings in fetuses with ultrasonographically diagnosed ventriculomegaly. Ann. Genet. 36:150-153, 1993. [PubMed: 8117059]
    It is suggested that prenatally diagnosed hydrocephalus should be regarded as an indication for a chromosomal analysis.
    Four cases were identified.
    47,XX and XY,+18.
    One with isolated hydrocephalus, one with spina bifida, and two with additional abnormalities and/or growth retardation.
    Index Terms: Ventriculomegaly
  • Same entry as in +21 (Scott et al, 1996).
  • Sepulveda W, Reyes M, Goncalves L F.: Two uncommon umbilical vessel anomalies in a fetus with trisomy 18. Prenat. Diag. 18:1098-1099, 1998. [PubMed: 9826906]
    47,XX,+18
    Fetus with multiple anomalies in which a hypoplastic umbilical artery and an abnormal course of the umbilical vein were identified.
    Index Terms: Umbilical vessel anomaly
  • Serville F D, Fontan D, Laurent C, Cazauran J M, Verger P: Mosaic 45,X/47,XY,+18. Hum. Genet. 36:351-353, 1977. [PubMed: 852877]
    45,X/47,XY,+18.&"A poorly-developed female infant with buphthalmia, Turner phenotype, and mental retardation. She died at 11 months. The mother, 34 years old, was mentally retarded and occasionally resided in a psychiatric hospital. Six children were alive and in good health; a son was mentally defective, and there was one miscarriage and one stillbirth."
    Index Terms: Edwards syndrome (trisomy 18),Still born (premature),Turner syndrome
  • Sharony R.: Fetal choroid plexus cysts-is a genetic evaluation indicated? Prenat. Diag. 17:519-524, 1997. [PubMed: 9203210]
    1/64 cases with isolated choroid plexus cysts turned out to be trisomy 18. The authors conclude that CPC as a solitary finding is not indicative of a genetic work-up but an index would be useful of all risk factors.
    Index Terms: Fetal choroid plexus cysts
  • Shashi V, Golden W L, von Kap-Herr C, Wilson W G.: Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18? AJMG 62: 38-41, 1996. [PubMed: 8779322]
    Blood, skin and liver cells were examined with D18Z1 probe.
  • Shibata K, Waldenmaier C, Hirsch W: The clinical and genetic picture of trisomy 18 (Edwards syndrome). Z. Kinderheilkd. 116:13-22, 1973. [PubMed: 4129502]
    47,XY,+18.
    Index Terms: Edwards syndrome (trisomy 18)
  • Slavotinek A, Poyser L, Wallace A, Martin F, Gaunt L, Kingston H.: Two unique patients with trisomy 18 mosaicism and molecular marker studies. AJMG 117A:282-288, 2003. [PubMed: 12599194]
    Case 1=Blood-47,XX,+18[30];skin-46,XX[30].,Case 2=Blood-47,XX,+18[30];skin-mos47,XX,+i(18)(p10)[47]/,47,XX,+18[9]/46,XX[4].
    Both patients had minor anomalies and were failure to thrive cases.
  • Smith A, Field B, Learoyd B M: Trisomy 18 at age 21 years. AJMG 34:338-339, 1989. [PubMed: 2596523]
    Smith A, Silink M, Ruxton T: Trisomy 18 in an 11 year-old girl. J. Ment. Def. Res. 22:277-286, 1978. [PubMed: 745227]
    She has marked kyphoscoliosis, spastic quadriplegia with contractures, and profound mental retardation. She had pyorrhea and loss of teeth. At age 20.5 years she had menarche and developed secondary sexual characteristics.
    Patient L. T. 250867 in this report.
    Skin fibroblast cultures also show 47,XX,+18 karyotype. Patient is now 12 years old.
    Index Terms: Edwards syndrome (trisomy 18)
  • Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J, on behalf of the Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party.: The predictive value of findings of the common aneuploidies, trisomies 13, 18, and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. collaborative study. Prenat. Diag. 19:817-826, 1999. [PubMed: 10521838]
    146 cases were studied.
    It was concluded that the highest level of predictive accuracy using cvs can only be achieved if both direct preparation and cell culture are performed. Also, amniocentesis or fetal blood sampling is recommended in case of mosaics.
  • Snijders R J M, Shawa L, Nicolaides K H.: Fetal choroid plexus cysts and trisomy 18: assessment of risk based on ultrasound findings and maternal age. Prenat. Diag. 14:1119-1127, 1994. [PubMed: 7899280]
    Index Terms: Choroid plexus cysts
  • Spencer K, Mallard A S, Coombes E J, Macri J N: Prenatal screening for trisomy 18 with free beta human chorionic gonadotropin as a marker. BMJ 307:1455-1458, 1993. [PMC free article: PMC1679522] [PubMed: 7506599]
    Spencer K, Muller F, Aitken D A.: Biochemical markers of trisomy 21 in amniotic fluid. Prenat. Diag. 17:31-37, 1997. [PubMed: 9021826]
    Index Terms: Gonadotropin ... beta human chorionic
  • Stoll C, Levy J M, Terrade E: Prolonged survival in trisomy 18. Ann. Ped. 21:185-190, 1974.
    47,XX,+18.&Karyotype confirmed by controlled heat denaturation technique was found in a 13-year-old patient.
    Index Terms: Edwards syndrome (trisomy 18)
  • Surana R B, Bain H W, Conen P E: 18-trisomy in a 15-year-old girl. AJDC 123:75-77, 1972. [PubMed: 5010559]
  • Szabo J, Gellen J, Szemere G: Non-immune hydrops in trisomy-18 - Diagnosis by vaginosonography and chorionic villus sampling in the 1st trimester - case report. Brit. J. Obst. Gynecol. 97:955-956, 1990. [PubMed: 2223690]
    Index Terms: Nonimmune hydrops,Vaginosonography,CVS
  • Tharapel A T, Moretti M L, Meyers C M, Shulman L P, Tipton R E, Summitt J B, Elias S, Wilroy R S, Jr, Epps M, Simpson J L: Diagnosis of trisomy 18 using spontaneously dividing cells: a novel approach for rapid late second and third trimester prenatal diagnosis. Am. J. Perinat. 7:211-213, 1990. [PubMed: 2372326]
    Tharapel S A, Dev V G, Shulman L P, Tharapel A T.: Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours. Ann. Genet. 41:69-72, 1998. [PubMed: 9706335]
    Case 1:
    47,XX,+18
    Fetal hydrops was detected by ultrasound.
    Index Terms: Cord blood
  • Thilaganathan B, Meher-Homji N J, Nicolaides K H.: Maternal platelet size as a marker for fetal trisomies 18 and 13. Prenat. Diag. 15:605-608, 1995. [PubMed: 8532618]
    Increase in maternal platelet size may be of some value in 13+ and 18+ pregnancies.
    Index Terms: Platelet ... size
  • Tucker M E, Garringer H J, Weaver D D.: Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. AJMG Part A: DOI=10.1002/ajmg.a.31535, 2007. [PubMed: 17266111]
    Patient 1=47,XX,+18[43]/46,XX[7]-blood.,Patinet 2=47,XX+18[14]/46,XX[16]-blood.
    The first patient was a 8 1/2 year old. ,The second patient was 21 months old.
    Index Terms: Mosaic 18+
  • Uehara S, Obara Y, Obara T, Funato T, Yaegashi N, Fukaya T, Yajima A.: Trisomy 18 mosaicism assocaited with secondary amenorrhea: ratios of mosaicism in different samples and complications. Clin. Genet. 49:91-94, 1996. [PubMed: 8740920]
    Blood:47,XX,+18(135)/46,XX(4); hyperpigmented area of the skin:(11)/(4); Normally pigmented area of the skin (0/20); Ascitic cells (6/14).
    The 28-year-old woman was evaluated because of irregular menstruation. Other dysmorphic features were present and ovaries contained neither follicles nor germ cells.
    Index Terms: Amenorrhea ... secondary
  • Urban B, Bersu E T: Chromosome 18 aneuploidy: anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18. AJMG 27:425-434, 1987. [PubMed: 3605225]
    Index Terms: Edwards syndrome (trisomy 18)
  • Valerio D, Altieri V, Cavallo D, Aiello R, Antonucci F R.: Detection of fetal trisomy 18 by short-term culture of maternal peripheral blood. Am. J. Obstet. Gynecol. 183:222-225, 2000. [PubMed: 10920335]
    Index Terms: maternal blood culture
  • Van Maldergem L, Gillerot Y, Koulischer L: Neural tube defects and omphalocele in trisomy 18. Clin. Genet. 35:77-79, 1989. [PubMed: 2924433]
    Index Terms: Omphalocele
  • van Zalen-Sprock R M, van Vugt J M G, van Geijn H P.: First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele. Prenat. Diag. 17:511-518, 1997. [PubMed: 9203209]
    18 fetuses were studied; 17 had omphalocele; and 8 revealed an abnormal karyotype.
    47,XX or XY,+18
    Index Terms: Omphalocele
  • Williamson R A, Weiner C P, Patil S R, Benda J, Varner M W, Abu-Yousef M M: Abnormal pregnancy sonogram: selective indication for fetal karyotype. Obst. Gynecol. 69:15-20, 1987. [PubMed: 3540760]
    13 out of 41 fetuses had chromosome anomalies. Only seven survived.
    Index Terms: Edwards syndrome (trisomy 18)
  • Wirtz A, Gloning K PH, Murken J: Trisomy 18 in chorionic villus sampling: problems and consequences. Prenat. Diag. 11:563-567, 1991. [PubMed: 1766931]
  • Wladimiroff J W, Stewart P A, Reuss A, Sachs E S: Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study. Prenat. Diag. 9:515-520, 1989. [PubMed: 2671976]
    It is suggested that the combined appearance of cardiac and extra-cardiac anomalies should prompt fetal karyotyping.
  • Wladimiroff J W, Stewart P A, Sachs E S, Niermeijer M F: Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies. AJMG 21:285-290, 1985. [PubMed: 3893127]
    Index Terms: Congenital heart defects (cardiovascular anomalies),Edwards syndrome (trisomy 18)
  • Ya-gang X, Robinson W P, Spiegel R, Binkert F, Ruefenacht U, Schinzel A A: Parental origin of the supernumerary chromosome in trisomy 18. Clin. Genet. 44:57-61, 1993. [PubMed: 8275560]
    23 families were investigated.
    77% were maternal, 23% were paternal and parental ages were increased.
  • Yamanaka M, Setoyama T, Igarashi Y, Kurosawa K, Itani Y, Hashimoto S, Saitoh K, Takei M, Hirabuki T.: Pregnancy outcome of fetuses with trisomy 18 identified by prenatal sonography and chromosomal analysis in a perinatal center. AJMG Part A DOI=10.1002/ajmg.a.31241, 2006. [PubMed: 16652360]
    Index Terms: Pregnancy outcomes in trisomy 18+
  • Yang J H, Chung J H, Shin J S, Choi J S, Ryu H M, Kim M Y.: Prenatal diagnosis of trisomy 18: report of 30 cases. Prenat. Diag. 25:119-122, 2005. [PubMed: 15712327]
    30 cases were studied from Oct ''98 to Dec 01.
    Most sensitive finding at under 16 weeks is increased nuchal translucency (75%) and after is cardiac defect (83%).
    Index Terms: Korea
  • Yoder P R, Sabbagha R E, Gross S J, Zelop C M.: The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21. Obst. Gynecol. 93:869-872, 1999. [PubMed: 10912435]
    The risk for trisomy 18 was 13.8 times greater but not for trisomy 21.
    Index Terms: Choroid plexus cysts
  • Zlotogora J, Eidelman A, Dudin A, Voss R: Microtia in infants with chromosomal trisomy. J. Craniofac. Genet. Develop. Biol. 8:205-206, 1988. [PubMed: 3209683]
    Case 1.
    47,XY,+18.
    Child died few days after birth.
    Index Terms: Microtia
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106945
Contents