Article
Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
American journal of medical genetics. Part A - 1 Nov 2005
Klein Ophir D, Cotter Philip D, Schmidt Ann M, Bick David P, Tidyman William E, Albertson Donna G, Pinkel Daniel, Rauen Katherine A
Abstract excerpt
Interstitial deletions of chromosome 12q are rare, with only 11 reported cases in the literature. We recently described two cases with cytogenetically identical interstitial deletions of the long arm of chromosome 12. Here, we report on a third patient, a 26-month-old male with a cytogenetically-identical interstitial deletion: 46,XY,del(12)(q21.2q22). Phenotypic features of this male proband included...
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