Phenotype–genotype correlation in two patients with 12q proximal deletion
نویسندگان
چکیده
منابع مشابه
Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
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 i...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2004
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-004-0144-5