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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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  • Chamla Y, Bilbeissi C, Michean M, Battin J: Partial 9q trisomy associated with a 9,21 translocation. Hum. Genet. 38:245-248, 1977. [PubMed: 908573]
    Case F.G. in this report. Parents karyotypically normal.
    Aberration: Simple translocation
    No band
  • Magnelli N C: Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV. Clin. Genet. 9:169-182, 1976. [PubMed: 1248176]
    Case M8 (SF 250248) in this report.
    47,XX,+9q-.&47,XX,+9(pter -> q:).
    Aberration: Simple translocation
    No band
  • Newton M S, Cunningham C, Jacobs P A, Price W H, Fraser I A: Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin. Genet. 3:226-248, 1972. [PubMed: 4262353]
    M. R. C. Registry No. K68-178-69 in this report.
    47,XY,+der(9)t(9q-;22p+)mat.&Same case reported by Chandley et al (1972) under 09q120.
    No band
  • Preus M, Schinzel A A, Ayme S, Kaijser K: Trisomy 9(pter to q1 to q3): the phenotype as an objective aid to karyotypic interpretation. Clin. Genet. 26:52-55, 1984. [PubMed: 6467656]
    No band
  • Sarto G E: Cytogenetics of fifty patients with primary amenorrhea. Am. J. Obst. Gynecol. 119:14-23, 1974. [PubMed: 4820908]
    Aberration: Simple translocation
    No band
  • Scheibenreiter S, Szilvassy J, Ender H: Partial trisomy 9 with partial retention of the long arm. Wien. Klin. Wochenschr. 88:264-267, 1976. [PubMed: 185815]
    47,XY,+del(9q-).&Giemsa banding showed an extra chromosome which appears -> be missing a segment of the long arm. Clinical features of this 14-year-old were microcephaly, enophthalmos, antimongoloid slant of the eyes, hypertelorism, protruding ears, large nose, downward slant of the mouth corners, hypoplasia of phalanges, abnormal dermatoglyphic patterns of low total ridge count and presence of simian crease, and severe mental retardation.
    Aberration: Terminal deletion
    Index Terms: Ears ... protruding,Eye ... antimongoloid,Eye ... enophthalm(us)(ia),Hypertelorism,Microcephaly,Mouth ... downturned corners
    No band
  • Schmid W: The prenatal diagnosis of chromosome anomalies. Triangle 11:91-102, 1972. [PubMed: 4656755]
    46,XX,t(9q-;18q+).&"46,XX and XY,der(9)der(18)t(9q-;18q+)mat."
    Aberration: Simple translocation
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105561
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