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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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18p111

18p11.1
  • Same entry as in 46,XY,-13,del(18p),+20 (Halushka et al, 2005).
  • Cantu E S, Khan T A, Pai G S: Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with alpha-satellite DNA probes: detection of a centromeric DNA break? AJMG 44:340-344, 1992. [PubMed: 1488982]
    46,XY,-18,+der(18),t(18;20)(p11.1;p11.2)pat.&"46,XY,t(18;20)(p11.1;p11.2)."
    The infant had MCA/MR.
    Variable band
  • Cohen O, Simonet M, Cans C, Mermet M A, Demongeot J, Amblard F, Jalbert P: Human reciprocal translocations: a new computer system for genetic counseling. Ann. Genet. 35:193-201, 1992. [PubMed: 1296514]
    faraut T, Mermet M.-A, Demongeot J, Cohen O.: Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet. Cell Genet. 88:15-21, 2000. [PubMed: 10773657]
    Data from 1,597 cases was analyzed. An excess of maternal origin cases was found, and production is influenced by size of the imbalance.
    Annex 3.
    t(18;21)(p11.1;p11.1).
    The RCPc (RCP counseling) is a knowledge base extracted from SCD (Structural chromosome data) containing information on 1376 families.
    Aberration: Reciprocal translocation
    Index Terms: Genetic counseling,Reciprocal translocations
    Variable band
  • Czako M, Riegel M, Morava E, Schinzel A, Kosztolanyi G.: Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). AJMG DOI=10.1002/ajmg.10243;108:226-228, 2002. [PubMed: 11891691]
    46,XX,der(18)t(18;20)(p11.1;p11.1)pat.
    The patient was 6 years old with MCA/MR and immunological problems.
    Aberration: Whole-arm translocations
    MIM#: 180300
    Chromosomal Aneuploidy: 18p-;20p+
    Index Terms: Rheumatoid arthritis
  • Goldstein I, Weissman A, Brill-Zamir R, Laevsky I, Drugan A.: Ethmocephaly caused by de novo translocation 18;21 - prenatal diagnosis. Prenat. Diag. 23:788-790, 2003. [PubMed: 14558020]
    45,XX,-18,-21,+t(18;21)(q11.1;q11.1)de novo
    The pregnancy was terminated. An ultrasound examination showed severe polyhydramnios.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 18p-
    Index Terms: Ethmocephaly
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case IV-17 from Khodr G.
    mos45,XX,-18[8%]/46,XX/46,XX,del(18)(p11.1)[4%]/,46,XX,del(18)(q11.1)[6%].
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18p-
    Variable band
  • Kim Y-M, Cho E-H, Kim J-M, Lee M-H, Park S-Y, Ryu H-M.: Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis. Prenat. Diag. 24: 161-164, 2004. [PubMed: 15057945]
    45,XX,dic(15;18)(p11.2;p11.1)de novo
    Case ascertained at 13 weeks. Pregnancy terminated at 23 weeks.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 18p-
    Index Terms: Nuchal translucency
  • Kuchle M, Kraus J, Rummelt C, Naumann G O H: Synophthalmia and holoprosencephaly in chromosome 18p deletion defect. Arch. Ophthal. 109:136-137, 1991. [PubMed: 1987932]
    46,XX,del(18)(qter -> p11.1:).
    The 700-g fetus was stillborn at 29 weeks. Abnormalties found were holoprosencephaly, arhinencephaly, craniofacial dysmorphia with a single orbit, proboscis, Fallot''s tetralogy, hexadactylia, syndactylia, uterus duplex, and vagina duplex.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18p-
    Index Terms: Synophthalmia,Holoprosencephaly,Arhinencephaly,Fallot's tetralogy,Vagina ... duplex,Uterus ... duplex,Hexadactylia,Syndactyl(y)(ia)
    Variable band
  • Liehr T, Beensen V, Hauschild R, Ziegler M, Hartmann I, Starke H, Heller A, Kahler C, Schmidt M, Reiber W, Hesse M, Claussen U.: Pitfalls of rapid prenatal diagnosis using the interphase nucleus. Prenat. Diag. 21:419-421, 2001. [PubMed: 11360288]
    Case 1: 46,XX,t(18;18)(qter->p11.3::p11.1->qter)[5]/,46,XX,del(18)(p11.?3)[21].
    The woman had aborted spontaneously at week 22+6 days. FISH studies had shown normal results but the GTG karyotyping on amniotic fluid gave the abnormal karyotype.
    Aberration: TD,WT
    Chromosomal Aneuploidy: 18p-;18q+
  • Marical H, Le Bris M J, Douet-Guilbert N, Parent P, Descourt J P, Morel F, De Braekeleer M.: 18p trisomy: a case of direct 18p duplication characterized by molecular cytogenetic analysis. AJMG Part A: DOI=10.1002/ajmg.a.31881, 2007. [PubMed: 17676610]
    46,XX,add(18)(p11)ish dup(18)(p11.1p11.32).
    The 2 1/2 year old patient with MCA and slow development.
    Aberration: Duplication
    Chromosomal Aneuploidy: 18p+
  • Moog U, Engelen J J M, de Die-Smulders C E M, Albrechts J C M, Loneus W H, Haagen A A M, Raven E J M, Hamers A J H.: Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin. Genet. 46:423-429, 1994. [PubMed: 7889659]
    Patient A:
    46,XY,der(18)(qter to p11.32::p11.1->pter)mat.
    At 3 3/12 years of age MCA and MR was noted.
    Patient B was also mentally disabled and 26 years old.
    Patient C:
    46,XX,inv dup(18)(qter->p11.32::p11.32->p11.1)del(18)(p11.32)de novo.
    The 3 year old patient had psychomotor retardation, bilateral epicanthus and a high arched palate.
    Aberration: Duplication
    Chromosomal Aneuploidy: 18p+
    Index Terms: Inversions ... duplication
    Variable band
  • Qumsiyeh M B, Tomasi A, Taslimi M.: Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques. J. Med. Genet. 32: 991-993, 1995. [PMC free article: PMC1051786] [PubMed: 8825933]
    mos46,XX,del(18)(p11.1)/46,XX,-18,+i(18q)de novo.
    Case came to attention because of maternal age (42) and polyhydramnios.
    The pregnancy was terminated.
    Aberration: IC,TD
    Chromosomal Aneuploidy: 18p-;18q+
    Variable band
  • Raoul O, Dutrillaux B, See G, Dayras J C, Lejeune J: "Trisomie et monosomie pour le bras court du chromosome 18 par translocation t(18;22)(p111;q13)." Ann. Genet., 1978.
    in press
    Patient I.P. No. 9491 in this report.
    46,XX,der(18)t(18;22)(p111;q1309).
    Aberration: Simple translocation
    Variable band
  • Smith A B, Peterson P, Wieland J, Moriarty T, DeLisi L E.: Chromosome 18 translocation (18;21) (p11.1;p11.1) associated with psychosis in one family. AJMG(Neuropsych. Genet.) 67:560-563, 1996. [PubMed: 8950415]
    46,XX,t(18;21)(p11.1;p11.1).,46,XX,-18,+der(18)t(18;21)(18qter->18p11.1::21p11.1->21qter)mat.,46,XY,dert(18;21)(p11.1;p11.1)mat.
    The family has MR, schizophrenia, and/or other related psychotic illnesses in individuals with the translocation.
    Aberration: Reciprocal translocation
    MIM#: 125480
    Chromosomal Aneuploidy: 18p-
    Index Terms: Psychosis,Bipolar disorder
    Variable band
  • Stankiewicz P, Brozek I, Helias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardas I, Wirth J, Mazurczak T, Limon J.: Clinical and molecular-cytogenetic stuides in seven patients with ring chromosome 18. AJMG DOI=10.1002/ajmg.1349, 2001. [PubMed: 11424138]
    Case 1, W.M.=46,XX,r.ish r(18)(p11.32q22.1)de novo.,Case 2, J.Z.=46,XX,r.ish r(18)(p11.32q21.3)de novo.,Case 3, L.S.=46,XY,r.ish r(18)(p11.32q21.2)de novo.,Case 4, M.M.=46,XY,r.ish r(18)(p11.1q22.3)de novo.,Case 5, A.T.=46,XX,r.ish r(18)(p11.1q22.3)de novo.,Case 6, A.F.=46,XX,add(18)(p11.2)[11]/47,XX,add(18)(p11.2),+r[5],.ish der(18)inv dup(18)(qter->p11.32::q21.3->qter),r(18)(p11.32q21.3).,Case 7, Z.A.=46,XX,add(18)(p11.32)[60]/47,XX,add(18)(p11.32),,+r[40].ish der(18)invdup(18)(qter->p11.32::p11.32->p11.1,::q21.3->qter),r(18)(p11.1q21.3)pat.
    Aberration: Ring chromosome
  • Tabet A C, Dupont J M, Lebbar A, Couturier-Turpin M H, Feldmann G, Rabineau D. : Heteromorphism 18ph+:: wuth or without reproductive consequences. Ann. Genet. 44:139-142, 2001. [PubMed: 11694226]
    Two cases are presented.
    46,XY,der dup(18)(p11.1)pat
    PRINS technique was used to confirm the polymorphism in both fathers.
    Aberration: Marker chromosome
  • Taviaux S, Moncla A, Giraud F, Demaille J, Mattei J F, Mattei M G: Diagnosis of minute chromosome changes using molecular cytogenetics. Ann. Genet. 32:204-210, 1989. [PubMed: 2610486]
    Observation No. 2.
    46,XX,t(18;22)(p111;p11).
    Phenotypically normal individuals.
    In situ hybridization revealed a small partial deletion of 18p (ie p111 to pter).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 18p-.
    Variable band
  • Wang J-C C, Nemana L, Kou S Y, Habibian R, Hajianpour M J.: Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p. AJMG 71:463-466, 1997. [PubMed: 9286456]
    Wang J-C C, Nemana L, Kou S Y, Habibian R, Hajianpour M J.: Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p. AJMG 71:463-466, 1997. [PubMed: 9286456]
    Case 1:
    45,XY,der t(18;21)(q10;q10)
    Holoprosencephaly was detected by sonography at 21 weeks. The pregnancy was terminated.
    Case 2:
    mos45,XY,der t(18;21)(q10;q10)[20]/,46,XY,del(18)(p11.1),del(21)(p11.1)[9].
    Holoprosencephaly was detected by sonography at 33 weeks. The infant was born at 39 weeks following a Cesarean section for increased head size and arrest of dilatation.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 18p-
    No band
  • Ward B E, Bradley C M, Cooper J B, Robinson A: Homodicentric chromosomes: a distinctive type of dicentric chromosome. J. Med. Genet. 18:54-58, 1981. [PMC free article: PMC1048659] [PubMed: 7252999]
    Variable band
  • Zahed L, Oreibi G, Azar C, Salti I.: Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism. AJMG 129A:25-28, 2004. [PubMed: 15266611]
    Blood=46,XY,der(8)t(8;18)(q24.3;p11.2),r(18)(p11.1q23)[78]/46,XY,r(18)(p11.1p23)[25]/46,XY,r(18)(p11.1q23),der(20)t(18;20)(p11.2;q13.3)[15].,Skin=46,XY,der(8)t(8;18)(q24.3;p11.2),r(18)(p11.1q23)[33]/46,XY,r(18)(p11.1p23)[9].
    The 26 year old was referred because of hypogonadism.
    Aberration: RI,JT
    Chromosomal Aneuploidy: 18p-;18q-
    Index Terms: Hypergonadotrophic hypogonadism
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106048
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