- Golden W L, Kirson L, Doty L, Wilson M G.: Prenatal detection of a true mosaic for a balanced reciprocal translocation. AJHG 49: 216A, 1991.
Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]Case Ia-2 from Golden et al., (1991).mos 46,XY/46,XY,t(6;14)(q16.3;q13)(31.3% in 16 colonies).A normal male liveborn.Aberration: Reciprocal translocationPositive band - Pandya A, Braverman N, Pyeritz R E, Ying K L, Kline A D, Falk R E.: Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature. AJMG 59:38-43, 1995. [PubMed: 8849008]Case 2:46,XX,del(6)(q16.3q22.3).The had MCA including right radial hypoplasia with contralateral duplication. The infant died at 9 months of age after recurrent aspiration pneumonia.Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-Positive band
Publication Details
Copyright
Copyright © 2011-2013, Digamber
Borgaonkar.
Publisher
National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 06q163.