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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-.

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

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  • Abuelo D N, Perl D P, Henkle C, Richardson A: Partial trisomy 8(trisomy 8q2106 to 8qter). J. Med. Genet. 14:463-466, 1977. [PMC free article: PMC1013647] [PubMed: 604499]
    Patient A.A., 210775, in this report.
    46,XY,-13,+der(13)t(8;13)(q21;q34)mat.,The patient is reported to be more dysmorphic and showed greater developmental retardation than previously reported cases with trisomy of the distal end of 8q. Maternal grandparents were cytogenetically normal.
    Aberration: Reciprocal translocation
    Index Terms: Developmental retardation
    Positive band
  • Barsel G, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation Nos. 804 and 805.
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 04q320,08p110 (Boue and Gallano, 1984).
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    Aberration: Reciprocal translocation
    Positive band
  • Bredberg A, Iselius L, Lindgren L, Lundmark K M: "Duplication of part of the long arm of chromosome 8 due to a familial 8;13 translocation." Hereditas 96:105-108, 1982. [PubMed: 7085335]
    46,XX,t(8;13)(q21;p11).&A newborn boy, 300376, with mental retardation, epilepsy, heart malformation and minor somatic abnormalities was karyotyped, who later died at age of 3 months.&The second pregnancy was detected by amniocentesis to be also that of an aneuploid state and was terminated. Risk is given as 2/18 from collation of data.&"46,XY,-13,+der(13)t(8;13)(13qter -> 13p11::8q21 -> 8qter)mat."
    Aberration: Simple translocation
    Index Terms: Congenital heart defects (cardiovascular anomalies),Epilepsy
    Positive band
  • Cerosaletti K M, Lange E, Stringham H M, Weemaes C M R, Smeets D, Solder B, Belohradsky B H, Taylor A M R, Karnes P, Elliott A, Komatsu K, Gatti R A, Boehnke M, Concannon P.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. AJHG 63:125-134, 1998. [PMC free article: PMC1377248] [PubMed: 9634525]
    Linkage of NBS to 8q21 was reported in 6/7 families with LOD score of 3.58. The gene is placed between D8S1757 and D8S270. A common founder haplotype was present on 15/18 disease chromosomes from 9/11 NBS families. Data suggests localization between D8S273 and D8S88.
    MIM#: 251260
    Index Terms: Nijmegen breakage syndrome (NBS)
    No band
  • Donahue M L, Ryan R M.: Interstitial deletion of 8q21->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. AJMG 56:97-100, 1995. [PubMed: 7747796]
    Patient JF:
    The infant had small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, and prominent, apparently low-set ears.
    Aberration: Interstitial deletion
    MIM#: 220200
    Chromosomal Aneuploidy: 8q-
    Index Terms: Dandy-Walker ... malformation
    Positive band
  • Fryns J P, Logghe N, van Eygen M, van den Berghe H: Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21). Hum. Genet. 48:127-130, 1979. [PubMed: 457127]
    Fryns J P, Logghe N, van Eygen M, van den Berghe H: Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum. Genet. 58:231-232, 1981. [PubMed: 6974680]
    Fryns J P, Verresen H, van den Berghe H, van Kerckvoorde J, Cassiman J J: Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl. Humangenetik 24:241-246, 1974. [PubMed: 4140835]
    Case S.A. (030368) in this report.
    46,XX,-13,+t(8;13)(q21;p1).&"46,XX,-13,+t(8;13)(13qter -> 13p1::8q21 -> 8qter)."
    Patient BS in this report.
    Aberration: Simple translocation
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    Positive band
  • Gardner R J M, Docker H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]
    Case 1:
    46,XY,dir dup(8)(q21 -> q22).
    Case 7:
    Aberration: DD,RT
    Index Terms: Mosaicism
    Positive band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    Aberration: Reciprocal translocation
    Positive band
  • Sachs E S, van Waveren G: Phenotype of partial trisomy 8(q21 to qter) in two unrelated patients with de novo translocation. J. Med. Genet. 18:204-208, 1981. [PMC free article: PMC1048706] [PubMed: 7241543]
    Patient 1, 060478, in this report.
    Patient 2, 230379, in this report.
    46,XY,-8,+der(8)(8qter->8q21::8p23->8qter).,Karyotypes of both parents were normal and there was no reason to doubt paternity.
    Aberration: Simple translocation
    Positive band
  • Woods C G, Bankier A, Curry J, Sheffield LJ, Slaney S F, Smith K, Voullaire L, Wellesley D.: Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J. Med. Genet. 31:694-701, 1994. [PMC free article: PMC1050079] [PubMed: 7815438]
    Case 1:
    Case 4:
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 8q-
    Index Terms: Asymmetry
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105990


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