کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5905071 1569528 2010 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Chromosomal imbalance letterAn interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Chromosomal imbalance letterAn interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2
چکیده انگلیسی

Postaxial polydactyly type A2 (PAP-A2; OMIM 602085) is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. Dose dependency has been shown for digital malformations in this region, deletions resulting in oligodactyly and duplications in polydactyly. We aimed to narrow down the critical region for PAP-A2 in order to identify candidate genes.We performed chromosomal analysis, FISH and array-CGH in a patient with an interstitial duplication of chromosome 13q31.3q32.1 and a mild phenotype including postaxial polydactyly. The duplicated region spanned 5.59 Mb (89.67-95.25 Mb) and contained eleven known genes, including GPC5 and GPC6.GPC5 and GPC6 show homology with GPC3 and GPC4, genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which also polydactyly can occur. Mouse studies have shown expression of both GPC5 and GPC6 in developing limbs. Therefore, we propose that GPC5 and GPC6 are the most likely candidate genes for PAP-A2.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 53, Issue 1, January–February 2010, Pages 45-49
نویسندگان
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