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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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  • Same entry as in 01p3611 (Edelhoff et al, 1998).

  • Same entry as in 01p362 (Shapira et al, 1997).

  • Blennow E, Bui T H, Wallin A, Kogner P.: Monosomy 1p36.31-33->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis. AJMG 65:60-67, 1996. [PubMed: 8914743]
    Interesting follow-up on this child as she grew to about 3 1/2 years of age with subtle anomalies.
    Brodeur et al (J. Clin. Oncol. 11:1466-1477, 1993) reported absence of any signs of neuroblastoma in this patient till 3 1/2 years of age.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1p-
    Negative band
  • Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Digilio M C, Mingarelli R, Dallapiccola B.: High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism. Clin. Genet. 66:30-38, 2004. [PubMed: 15200505]
    Patient 3 and 5=46,XX,del(1)(p36.31)de novo.,Patient 14=46,XX,der(7)t(1;7)(p36.31;q36.2)pat.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 1p-
  • Same entry as in 01p363 (Reish et al, 1995).

  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD8703041:
    Case ascertained via prenatal diagnosis.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105493
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