- 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 deletionChromosomal 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: DuplicationChromosomal Aneuploidy: 21q+No 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-. 21q2213.