کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814482 1569526 2010 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay
چکیده انگلیسی

Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 53, Issue 3, May–June 2010, Pages 136–140
نویسندگان
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