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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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  • Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois M-C, Prieur M, Vekemans M, Carter N P, Munnich A, Colleaux L. : Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. Clin. Genet. DOI=10.1111/j.1399-0004.2004.00288.x; 66:122-127, 2004. [PubMed: 15253762]
    97 patients were tested with 400 markers.
    Family 1:
    46,XX,del(21)(q22.13-q22.3)de novo. Loss of clones RP11-98013,RP11-164E1,RP5-1031P17, and RP11-113F1.
    Patient had severe MR, severe constipation and dysmorphic features.
    Deletion spanning over 4.5 Mb.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 21q-
  • Forster-Gibson C J, Davies J, Mackenzie J J, Harrison K.: Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome. Clin. Genet. 59:438-443, 2001. [PubMed: 11453976]
    Propositus GC:
    46,XY,?dup(21)(q22.13q22.2).ish dup(21)(LSI-21++,wcp21+).
    The 33 year-old patient, at the age of 9 months, repeatedly was reported has having normal karyotypes, but was clinically diagnosed with Down syndrome.
    Aberration: Duplication
    Chromosomal Aneuploidy: 21q+
    No band
  • Same entry as in 21q111 (Ohta et al, 1996).

  • Same entry as in 12p131 (Wenger et al, 1995).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105599
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