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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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  • Bochkov N P, Kuleshov N P, Chebotarev A N, Alekhin V I, Midian S A: Population cytogenetic investigation of newborns in Moscow. Humangenetik 22:139-152, 1974. [PubMed: 4858449]
    Aberration: Terminal deletion
    No band
  • Budyakov V I, Bondarenko E S, Zubkova V L: A case of D/E translocation 45,XX,13-,18-,t(18q+,13-). Genetika 11:133-137, 1975.
    45,XX,-13,-18,+t(18pter -> 18q::13q -> 13qter).
    Aberration: Simple translocation
    No band
  • Same entry as in 06q200 (Escobar and Yunis, 1974).

  • Same entry as in 05q000 (Fredga and Hall, 1970).

  • Same entry as in 06q200 (Fryns et al, 1974).

  • Same entry as in 02q000 (Genest et al, 1971).

  • Same entry as in 0Yq100 (Gilgenkrantz et al, 1973).

  • Grosse K P, Schwanitz G: A new syndrome caused by deletion of a part of a chromosome (13q-). Case descriptions and compilation of symptoms. Klin. Paed. 185:468-473, 1973. [PubMed: 4798674]
    46,XY,del(13)(q).&46,XY,del(13)(pter -> q:).
    Aberration: Terminal deletion
    No band
  • Guanti G: The aetiology of the cat eye syndrome reconsidered. J. Med. Genet. 18:108-118, 1981. [PMC free article: PMC1048682] [PubMed: 7241528]
    It is suggested that the small marker present in cat eye syndrome is chromosome 13 with an interstitial deletion.
    Case 1.
    Case 2.
    Case 3.
    Index Terms: Cat's eye syndrome
    No band
  • Same entry as in 18+ (Hanna et al, 1996).

  • Hayes T G, del Rosario A J: D-group chromosomal aberration: 13q+. Lancet 2:1215, 1973. [PubMed: 4127597]
    No band
  • Ikeuchi T, Kondo I, Sasaki M, Kaneko Y, Kodama S, Hatton T: Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21- monosomy. Hum. Genet. 33:327-330, 1976. [PubMed: 964993]
    45,XY,-13,-21+der(13)t(13;21)(q2 or 3;q1 or 2)pat.&The translocation (13q/21q) occurred de novo, probably in the paternal meiotic process. This report revises the previous interpretation of 21- monosomy by Kaneko et al, 1975.
    Aberration: Simple translocation
    No band
  • Lazjuk G I, Lurie I W, Kravtzova G I, Usoev S S: New cytogenetic variant of Orbeli''s syndrome (46,XY/45,XY-D/46,XY,Dq+). Hum. Genet. 20:219-221, 1973. [PubMed: 4772075]
    A newborn child (IGE 170571) with multiple congenital abnormalities, including severe hypoplastic thumb and atresia recti, is described.&mos 46,XY/45,XY,-D/46,XY,Dq+.
    Aberration: Tandem translocation
    Index Terms: Anus ... anal atresia,Atresia ... anal,Orbeli syndrome,Thumbs ... hypoplastic
    No band
  • Lele K P, Penrose L S, Stallard H B: Chromosome deletion in a case of retinoblastoma. Ann. Hum. Genet. 27:171-174, 1963. [PubMed: 14081487]
    Case 300161 in this report.
    Deletion of a D group chromosome was found. Parents and sibs had normal chromosome. (It was stated by the authors that the deleted chromosome was probably No. 15 but is now believed to be a 13 because of the association with retinoblastoma of which this is the first documentation).
    Aberration: Interstitial deletion
    MIM#: 180200
    Index Terms: Retinoblastoma
    No band
  • Leppert M, Cavenee W K, Callahan P, Holm T, O''Connell P, Thompson K, Lathrop G M, Lalouel J M, White R: A primary genetic map of chromosome 13q. AJHG 39:425-437, 1986. [PMC free article: PMC1683981] [PubMed: 3464200]
    No band
  • Martin P A, Thorburn M J, Smith-Read E H M: Chromosomal rearrangements in three generations of a Jamaican family. Cytogenetics 9:360-368, 1970. [PubMed: 5501393]
    46,XX,ins(17;13)(q;q).&"46,XX,ins(17;13)(17qter -> 17q::13q -> 13q::17q -> 17pter;13pter -> 13q::13q -> 13qter)."&"46,XX and XY,der(17)der(13)ins(17;13)(q;q)mat."
    Aberration: Direct insertion between two chromosomes
    No band
  • McGilvray E, Kajii T, Freund M, Bamatter F, Klein D: "A balanced 13-18 translocation 46,XY,t(13q-;18q+) in the father of an infant with multiple anomalies." Humangenetik 12:316-322, 1971. [PubMed: 5564360]
    46,XY,t(13;18)(q;q2).&Chromosome identification by autoradiography.
    Aberration: Simple translocation
    No band
  • Same entry as in 03p000 (Michels et al, 1982).

  • Same entry as in 09p000 (Muller, 1973).

  • Same entry as in 02q370 (Neri et al, 1983).

  • Same entry as in 01p000 (Newton et al, 1972).

  • Noel B, Quack B, Rethore M O: "Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations." Clin. Genet. 9:593-602, 1976. [PubMed: 1277571]
    Case 4 (72388) in this report.
    46,XX,del(13)(q14?31).&An interstitial deletion is suggested including part of band q14? or 21 -> 31.
    Aberration: Interstitial deletion
    No band
  • O''Grady R B, Rothstein T B, Romano P E: D-group deletion syndromes and retinoblastoma. Am. J. Opthal. 77:40-45, 1974. [PubMed: 4824172]
    46,XX,Dq-.&Although no specific identification has been made of the chromosome and the segment deleted, it is assumed that the chromosome is 13 and a terminal deletion of about half of the long arm is present.
    Aberration: Terminal deletion
    Index Terms: Retinoblastoma
    No band
  • Same entry as in 13q210 (Pai et al, 1979).

  • Same entry as in 09p230 (Serra et al, 1980).

  • Same entry as in 04p100 (Taillemite et al, 1973).

  • Talvik T A, Mikelsaar A V N, Mikelsaar R V A, Kyaosaar M E, Tuur S J: "Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+))." Humangenetik 19:215-226, 1973. [PubMed: 4763926]
    Family F2 in this report.
    46,XX and XY,t(13;21)(q;q2).&46,XX,t(21q+).&"46,XX,-21,+der(21) t(13;21)(q;q2)pat."&"46,XX,-21,+der(21) t(13;21)(21pter -> 21q2::13q -> 13qter)pat."
    Aberration: Reciprocal translocation
    No band
  • Same entry as in 11q000 (Tierney et al, 1984).

  • Weichselbaum R R, Nove J, Little J B: Skin fibroblasts from a D-deletion type retinoblastoma patient are abnormally x-ray sensitive. Nature 266:726-727, 1977. [PubMed: 876352]
    It was found that skin fibroblasts derived from a patient with the D-deletion (probably 13q deletion) variant of retinoblastoma are abnormally radiosensitive.
    Index Terms: Retinoblastoma
    No band
  • Wilson M G, Towner J W, Fujimoto A: Retinoblastoma and D-chromosome deletions. AJHG 25:57-61, 1973. [PMC free article: PMC1762223] [PubMed: 4119334]
    Index Terms: Retinoblastoma
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105574
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