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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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08p231

8p23.1
  • Barber J C K, Joyce C A, Collinson M N, Nicholson J C, Willatt L R, Dyson H M, Bateman M S, Green A J, Yates J R W, Dennis N R.: Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J. Med. Genet. 35:491-496, 1998. [PMC free article: PMC1051344] [PubMed: 9643291]
    Barber J C K, Maloney V, Hollox E J, Stuke-Sontheimer A, du Bois G, Daumiller E, Klein-Vogler U, Dufke A, Armour J A L, Liehr T.: Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Europ. J. Hum. Genet. 13:1131-1136, 2005. [PubMed: 16077733]
    Seven families with dup(8)(p23.1) are presented. Four are familial.
    dup(8)(p23.1p23.1)
    This karyotypic change ''can be regarded as euchromatic variants or duplications with no phenotypic effect.''
    This is a good study reporting original data as well as collating information from previously reported cases.
    Two new patient families are reported.
    Family (patient) 1=46,XX,dup(8)(p23.1)(circa 5 Mb)
    Patient 1 had pulmonary stenosis and mild language delay.
    Duplication of GATA4 suggests it is dosage-sensitive with variable penetrance. In the second family, MAPH showed 11 copies of the 360 kb varaible defensin domain.
    Aberration: DU,MA
    Chromosomal Aneuploidy: 8p+
  • Barber J C K, Maloney V K, Huang S, Bunyan D J, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch S A, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.: 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Europ. J. Hum. Genet. 16: 18-27, 2008. [PubMed: 17940555]
    8p23.1 duplication syndrome is associated with a charactericstic facial phenotype including a prominent forehead and arched eyebrows. The duplication is compatible with normal early childhood development, but learning difficulties have been experienced by some.
    Case 1=46,XX,dup(8)(p23.1p23.1).ishdup(8)(p23.1p23.1)(122N11++?,211C9++,589N15++,24D9++?+).,Family 1: Mother=46,XX,dup(8)(p22p23.1)dn.ish dup(8)(p22p23.1)(2629I16+,122N11enh,211C9++,112G9++,589N15++,24D9+++,92C1++,433L7+).arr cgh(B35:CHR8:256 229-12 285 464++,12 626 674-13 127 400+++).,Family 2: proband=46,XY,dup(8)(p23.1p23.1)del(8)(q22.1q22.1)mat.ish dup(8)del(8)(991023+,2629I16+,122N11+,211C9++,112G9++,589N15++,433L7+,100L22-,10N23-), arrcgh dup(8)del(8)(B35:CHR8 168 040-11 897 580++,93 458057-96 599 593-).
    Aberration: DU,ST,RT
    Chromosomal Aneuploidy: 8p+
    Index Terms: Array CGH
  • Bhatia S N, Suri V, Bundy A, Krauss C M.: Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease. Prenat. Diag. 19:863-867, 1999. [PubMed: 10521847]
    46,XX,del(8)(p23.1->pter)
    The 18 weeks'' fetus was found to have an atrio-ventricular canal, persistent left superior vena cava and hypoplastic right ventricle. The pregnancy was terminated at 20 weeks.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
  • Bosse K, Eggermann T, Van der Ven K, Raff R, Engels H, Schwanitz G.: Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1): case report and review of terminal deletions. Ann. Genet. 47:191-197, 2004. [PubMed: 15183753]
    45,X,der(8).ish t(Y;8)(q11.23;p23.1).
    The boy had psychomotor delay, talipes planus, dolicocephaly, low set and retroverted ears, supraorbital fullness of cutaneous tissue and bulbous nasal tip.
    Translocation occurred in the zygote and the monosomy 8p is of maternal origin. Y centromere is inactive.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 8p-;Yq-
  • Same entry as in 04p169 (Boue and Gallano, 1984).
  • Bui T H, Zang S, Castro I: A familial pericentric inversion of chromosome 8 analysed with a high resolution chromosome banding technique. Clin. Genet. 21:266-271, 1982. [PubMed: 7105473]
    46,XX,inv (8)(p231q121).,46,XX and XY,der inv(8)(p231q121)mat.
    Aberration: Inversion pericentric
    Negative band
  • Chen C-P, Wang T-H, Chen Y-J, Chang T-Y, Liu Y-P, Tzen C-Y, Chern S-R, Wang W.: Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat. Diag. DOI=10.1002/pd.1797, 2007. [PubMed: 17602449]
    46,XX,del(8)(p23.1)dn
    Deletion of 0.7-Mb was from 7227000 to 791187.
    Aberration: Interstitial deletion
    MIM#: 229850
    Chromosomal Aneuploidy: 8p-
    Index Terms: Fryns syndrome
  • Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, fryns J P, Devriendt K.: A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. AJMG (Neuropshychiat. Genet.) 74:515-520, 1997. [PubMed: 9342203]
    Devriendt K, de Mars K, de Cock P, Gewillig M, Fryns J P.: Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. Ann. Genet. 38:228-230, 1995. [PubMed: 8629811]
    Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Brondum-Nielsen K, Marynen P, Fryns J-P, Vermeesch J R.: Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. AJHG 64:1119-1126, 1999. [PMC free article: PMC1377836] [PubMed: 10090897]
    46,XX,del(8)(p23.1->pter)
    The child was 8 years old with ASD, hypernasal speech with an immobile soft palate, learning difficulties and behavioral problems.
    FISH using probe DO832 did not detect a deletion at 22q11.
    Five patients are presented in the 1997 paper.
    Patient 1 (M.V.):46,XY,del(8)(p23.1->pter)de novo.,Patient 2 (E.G.):46,XX,del(8)(p21->pter)de novo.,Patient 3 (T.S.):46,XY,del(8)(p23.1->pter).,Patient 4 (D.V.P.) reported by Fryns et al (1989).,Patient 5 (L.H.) reported by Devriendt et al (1995).
    Aberration: Terminal deletion
    MIM#: 192430
    Chromosomal Aneuploidy: 8p-
    Index Terms: VCF syndrome
    No band
  • Ciccone R, Mattina T, Giorda R, Bonaglia M C, Rocchi M, Pramparo T, Zuffardi O.: Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. J. Med. Genet. 43: e19; DOI=10.1136/jmg.2005.037671, 2006. [PMC free article: PMC2564524] [PubMed: 16648372]
    Digilio M C, Giannotti A, Floridia G, Uccellatore F, Mingarelli R, Danesino C, Dallapiccola B, Zuffardi O: Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. J. Med. Genet. 31:238-241, 1994. [PMC free article: PMC1049750] [PubMed: 8014974]
    Zuffardi O, Bonaglia M, Ciccone R, Giorda R.: Inverted duplications deletions: underdiagnosed rearrangements?? Clin. Genet. 75: 505-513, 2009. [PubMed: 19508415]
    Case 1 (in the first report by Digilio et al):
    46,XX,psu dic(8)(p23.2)/46,XX,del(8)(p23.1).
    Case 2:
    46,XY,-8,+idic(8)(qter -> p23::p23 -> qter)de novo.
    Agenesis of the corpus callosum was noted.
    Aberration: DI,TD
    Chromosomal Aneuploidy: 8q+,8p+
    Index Terms: Agenesis of corpus callosum,Inverted duplications deletions
  • Engelen J J M, Loneus W H, Vaes-Peeters G, Schrander-Stumpel C T R M.: Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients. AJMG DOI=10.1002/ajmg.a.30457;132A:276-277, 2004 and 2005. [PubMed: 15578614]
    Milunsky J M, Huang X L.: Unmasking Kabuki syndrome: chromosome 8p22-p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin. Genet. 64:509-516;DOI=10.1046/j.1399-0004.2003.00189.x, 2003. [PubMed: 14986831]
    As stated in the title of the paper, Engelen et al were unable to confirm the cytogenetic abnoramlity in their series of patients with Kabuki syndrome.
    Six patients with KS were studied.
    dup(8)(p22p23.1).,46,XX,inv(8)BAC probe RP11-122N11
    These authors have demonstarted an approximately 3.5 Mb duplication of chromosome 8p22-8p23.1 in multiple cases of KS from different races.
    Aberration: DU,IP
    MIM#: 147920
    Chromosomal Aneuploidy: 8p+
    Index Terms: Kabuki syndrome
  • Engelen J J M, Moog U, Evers J L H, Dassen H, Albrechts J C M, Hamers A J H.: Duplication of chromosome region 8p23.1->p23.3: a benign variant? AJMG 91:18-21, 2000. [PubMed: 10751083]
    Patient 1 was 34 years old and referred because of oligoasthenozoospermia. His mother and brother have the same chromosome make-up.
    46,XX or XY, dup(8)(pter->p23.1::p23.3->qter).
    Aberration: DU,MA
    Chromosomal Aneuploidy: 8p+
  • Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, Aubry M C, Raclin V, Edery P, Munnich A, Vekemans M.: Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature. Prenat. Diag. 18:1055-1060, 1998. [PubMed: 9826897]
    46,XX,del(8)(p23.1)de novo
    At 22 weeks of pregnancy, the discovery of diaphragmatic hernia prompted karyotyping. Facial dysmorphism, eyelid edema, and atrio-ventricular canal were noticed at autopsy.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Hernia diaphragmatic
  • Fryns J P, Kleczkowska A, Vogels A, Van den Berghe H: Normal phenotype and slight mental retardation in de novo 8p deletion (8pter to 8p23.1:). Ann. Genet. 32:171-173, 1989. [PubMed: 2573313]
    Patient VPD
    46,XY,del(8)(qter -> p23.1:)de novo.
    The 9 year old boy had behaviour problems and was mentally retarded.
    The patient did not present major phenotypic abnormalities.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Negative band
  • Gibbons B, Tan S Y, Barber J C K, Ng C F, Knight L A, Lam S, Ng I.: Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters. J. Med. Genet. 36:419-422, 1999. [PMC free article: PMC1734374] [PubMed: 10353792]
    46,XX,dup(8)(p23.1p23.1).ish(YAC HTY3020x3)
    Proband had a smallish with very mild facial dysmorphism. The mother worked as a sales clerk after regular education.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
  • Gilmore L, Cuskelly M, Jobling A, Smith S.: Deletion of 8p: a report of a child with normal intelligence. Dev. Med. Child Neurol. 43:843-846, 2001. [PubMed: 11769273]
    46,XX,del(8)(p23.1->pter).
    The patient has been followed for 5 years. Despite initial delays, gross motor and language skills, cognitive development and intellectual ability were found to be within the average range.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
  • Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney V K, Thomas N S, Bunyan D J, Jackson A, Barber J C K.: Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Europ. J. Hum. Genet. 17: 37-43, 2009. [PMC free article: PMC2985953] [PubMed: 18716609]
    46,XY,der dup(8)(p23.1-p23.2)mat.
    The 2 year old child had speech delay and autism while the mother had epilepsy and learning problems.
    The extended over a minimum of 6.8 Mb between 3 539 893 and 10 323 426 bp.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    Index Terms: Autis(m)(tic),,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Same entry as in 08p112, 08p120 (Guo et al, 1995).
  • Hagerman R, Berry R, Jackson A W III, Campbell J, Smith A C M, McGavran L: Institutional screening for the fragile X syndrome. AJDC 142:1216-1221, 1988. [PubMed: 3177330]
    Case 8
    46,XY,del(8)(p23.1).
    Epicanthal folds, low-set ears, high palate, simian creases, hyperpigmentation.
    Aberration: Terminal deletion
    Negative band
  • Hutchinson R, Wilson M, Voullaire L: Distal 8p deletion (8p23.1 to 8pter): a common deletion? J. Med. Genet. 29:407-411, 1992. [PMC free article: PMC1015992] [PubMed: 1619636]
    5 cases were studied.
    46,XX or XY,del(8)(p23.1->pter)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Negative band
  • Kennedy S J, Teebi A S, Adatia I, Teshima I.: Inherited duplication , dup(8)(p23.1p23.1)pat, in a father and daughter with congenital heart defects. AJMG DOI=10.1002/ajmg.1598; 104:79-80, 2001. [PubMed: 11746033]
    Proband=46,XX,dup(8)(p23.1p23.1)pat.,Father=mos46,XY,dup(8)(p23.1p23.1)[17]/46,XY[8].
    The 16 year old proband was born with pulmonary atresia, VSD without central pulmonary arteries, right aortic arch, and aberrant subclavian artery. The father has an isolated right aortic arch.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
  • Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, Poot M, Tanke H J, Rosenberg C.: Insights from genomic microarrays into structural chromosome rearrangements. AJMG DOI=10.1002/ajmg.a.30378; 132A:36-40, 2004 and 2005. [PubMed: 15558722]
    Patient B:
    Mother=46,XX,inv(8)(p23.1q21.2).,Patient=46,XY,der(8)(qter?q21.3::p23.2?qter)mat.
    The infant died at 11 days of age.
    Aberration: PI,RE
    Index Terms: Array CGH
  • Lockwood D H, Neu R L: Cytogenetic analysis of 1375 amniotic fluid specimens from pregnancies with gestational age less than 14 weeks. Prenat. Diag. 13:801-805, 1993. [PubMed: 8278310]
    46,XY,inv(8)(p23.1q21.2)mat.
    Studies showed that early amniotic fluid specimen are adequate for prenatal diagnosis and obstetricians are using this approach.
    Aberration: Inversion pericentric
    Index Terms: Early amniotic fluid
    Negative band
  • Lopez I, Bafalliu J A, Bernabe M C, Garcia F, Costa M, Guillen-Navarro E.: Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects. Prenat. Diag. 26: 577-580, 2006. [PubMed: 16700088]
    Lopez I, Bafalliu J A, Bernabe M C, Garcia F, Costa M, Guillen-Navarro E.: Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects. Prenat. Diag. 26: 577-580, 2006. [PubMed: 16700088]
    Case 1: A 32 year old woman was referred because fetal ultrasound examination revealed diaphragmatic hernia and ASD.
    46,XY,del(8)(p23.1)dn.ish del(8)(p23.1p23.1)(wcp8+,tel 8p+).
    Pregnancy was terminated.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: Diaphragmatic hernia,CHD
  • Naritomi K, Hirayama K: Partial trisomy of distal 8q derived from mother with mosaic 8q23.3 to 24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum. Genet. 82:199-201, 1989. [PubMed: 2722199]
    46,XX,del(8)(q23.3q24.13).,46,XX,-8,+der(8),inv ins(8;8)(p23.1;q24.13q23.3).
    Aberration: ID,II
    MIM#: 190350
    Chromosomal Aneuploidy: 8q-,8q+
    Negative band
  • O''Malley D P, Storto P D.: Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations. Prenat. Diag. 19:183-184, 1999. [PubMed: 10215083]
    46,XY,der dup(8)(p23.1)pat.
    The fetus was developing normally.
    Aberration: DU,MA
    Chromosomal Aneuploidy: 8p+
  • Ohashi H, Wakui K, Ogawa T, Okano T, Niikawa N, Fukushima Y.: A stable acentric marker chromosome: possible existence of an intercalary ancient centromere at distal 8p. AJHG 55:1202-1208, 1994. [PMC free article: PMC1918454] [PubMed: 7977381]
    Case A.S.(4-1221-6):
    47,XX,+der(8)(pter->p23.1::p23.1->pter)de novo.
    The patient, a 2 year old, had patent ductus arteriosus and development quotient was 73.
    An intercalary ancient centromere in the distal 8p segment is thought to have been activated.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    Index Terms: Centromere ... ancient
    Negative band
  • Pecile V, Petroni M G, Fertz M C, Filippi G: Deficiency of distal 8p-: report of two cases and review of the literature. Clin. Genet. 37:271-278, 1990. [PubMed: 2190718]
    Case 2.
    46,XX,del(8)(qter -> p23.1)de novo.
    Mother had a spontaneous abortion with trisomy 16 (47,XY, +16).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Negative band
  • Pehlivan T, Pober B R, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson D B, Watson M S, Hing A V.: GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. AJMG 83:201-206, 1999. [PubMed: 10096597]
    Five cases are presented:
    1, M.T.=46,XX,del98)(p23.1p23.2)de novo.,2, M.S.=46,XY,del(8)(p23.1)de novo.,3, R.P.=46,XX,del(8)(p23.1p23.2)de novo.,4, k.M.=46,XX,del(8)(p23.1).,5, A.M.=46,XX,del(8)(p23.1)de novo.
    The authors postulate that GATA-4 deficiency may contribute to the phenotype of patients with monosomy of 8p23.1.
    GATA4 FISH probe was used to demonstrate the deletion in patients with CHD. 48 controls were studied.
    Aberration: Interstitial deletion
    MIM#: 600576
    Chromosomal Aneuploidy: 8p-
    Index Terms: GATA4
  • Pierquin G, Herens C, Dodinval P, Frederic J, Weber I, Senterre J, Fryns J P: "Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature." Clin. Genet. 33:386-389,, 1988. [PubMed: 3288379]
    Father:46,XY,t(8;20)(p23.1;q11).,46,XY,t(8;20)(8qter->8p231::20q11->20qter;,20pter->20q11::8p231->8pter).,46,XX,-8,+der(8)t(8;20)(8qter->8p231::20q11->20qter)pat.
    Patient was a malformed newborn female.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 20q+
    Negative band
  • Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager H-D, Tariverdian G, Brown J, Kearney L, Jauch A.: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. DOI=10.1007/s00439-002-0739-x; 111:31-39, 2002. [PubMed: 12136233]
    Case 4, 8 months old:
    46,XX,der(8)t(8;11)(p23.1;p15.5)de novo
    Case 5, was 2 months old:
    46,XY,der del(8)(p23.1p23.1)pat
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 8p-;11p+
    Index Terms: Multiplex FISH (M-TEL) assay
  • Ravnan J B, Chen E, Golabi M, Lebo R V.: Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. AJMG 66:250-256, 1996. [PubMed: 8985481]
    46,XX,del(8)(p23.1)de novo
    Patient was 3 months old.
    Aberration: Terminal deletion
    MIM#: 192430
    Chromosomal Aneuploidy: 8p-
    Index Terms: Velo-Cardio-Facial syndrome
    Negative band
  • Reddy K S.: A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases. Prenat. Diag. 19:868-872, 1999. [PubMed: 10521848]
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
  • Slavotinek A, Lee S S, Davis R, Shrit A, Leppig K A, Rhim J, Jasnosz K, Albertson D, Pinkel D.: Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J. Med. Genet. 42:730-736, 2005. [PMC free article: PMC1736126] [PubMed: 16141010]
    Slavotinek A, Lee S S, Davis R, Shrit A, Leppig K A, Rhim J, Jasnosz K, Albertson D, Pinkel D.: Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J. Med. Genet. 42:730-736, 2005. [PMC free article: PMC1736126] [PubMed: 16141010]
    46,XY,del(8)(p23.1). Deletion range from 2 to 6 Mb.
    Stillborn with MCA. Diagnosis of FS was made at autopsy.
    Aberration: Interstitial deletion
    MIM#: 229850
    Chromosomal Aneuploidy: 8p-
    Index Terms: Fryns syndrome (FP),Congenital diaphragmatic hernia (CH)
  • Stratton R F, Dobyns W B, Airhart S D, Ledbetter D H: New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum. Genet. 67:193-200, 1984. [PubMed: 6745939]
    Family reported by Garcia et al, (1978).
    46,XX,t(8;17)(p23.1;p13.1).,Presumed karyotype: 46,XX,-17,+der(17)t(8;17),(17qter->17p13.1::8p23.1->8pter)mat.
    Aberration: Simple translocation
    Index Terms: Miller-Dieker syndrome
    Negative band
  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    46,XY,der dup(8)(p23.1p23.1)
    Aberration: Duplication
    Index Terms: ICSI
  • van den Ouweland A M W, de Vries B B A, Bakker P L G, Deelen W H, de Graaff E, van Hemel J O, Oostra B A, Niermeijer M F, Halley D J J: DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. AJMG 51:482-485, 1994. [PubMed: 7943024]
    Patient 7:
    46,XY,del(8)(p23.1).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Negative band
  • Wu B L, Schneider G H, Sabatino D E, Bozovic L Z, Cao B.: Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. AJMG 62:77-83, 1996. [PubMed: 8779331]
    Cases 1(93-240), 2(90-339); 3(92-531):
    46,XX or XY,del(8)(qter->p23.1:).
    A review of the data on the recently reported 15 such cases has been made.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8p-
    Index Terms: CHD
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105513
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