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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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01p300

1p30
  • Byrd J R, Askew D E, McDonough P G: Cytogenetic findings in fifty-five couples with recurrent fetal wastage. Fert. Ster. 28:246-250, 1977. [PubMed: 557002]
    Case 2 E. B. in this report.
    46,XY,t(1;9)(p3;p2).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]
    46,XX,rcp(1;16)(p3;p1).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Kjessler B, Gustavson K H, Wigertz A: Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl. Clin. Genet. 14:8-15, 1978. [PubMed: 679524]
    46,XX,r(1)(p3q4).
    Aberration: Ring chromosome
    No band
  • Nuzzo F, Giorgi R, Zuffardi O, Dambrosio F: "Translocation t(1p+;2q-) associated with recurrent abortion." Ann. Genet. 16:211-214, 1973. [PubMed: 4543211]
    46,XX,t(1;2)(p3;q1).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Stenchever M A, Parks K J, Daines T L, Allen M A, Stenchever M R: Cytogenetics of habitual abortion and other reproductive wastage. Am. J. Obst. Gynecol. 127:143-150, 1977. [PubMed: 556663]
    46,XX/46,XX,t(1p+;2q-) (50% of the blood cells).&"46,XX,t(1p+;17q-)."&Karyotyping data are not entirely clear in this report.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Tartaglia A P, Propp S, Amarose A P, Propp R P, Hall C A: Chromosome abnormality and hypocalcemia in congenital erythroid hypoplasia (Blackfan-Diamond syndrome). Am. J. Med. 41:990-999, 1966. [PubMed: 5954459]
    A gap was reported in this region.
    MIM#: 205900
    Index Terms: Blackfan-Diamond syndrome,Hypocalcemia
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107019

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