کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2813712 1569480 2015 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities
چکیده انگلیسی

We report on the clinical data and molecular cytogenetic findings in three unrelated patients presenting with intellectual disability and behavior abnormalities. An overlapping microduplication involving 3p26.2-26.3 was identified in these patients. All three aberrations were confirmed and proven to be parentally inherited. The sizes of the duplications were different, with a common minimal region of 423,754 bp containing two genes – TRNT1 and CRBN. Here, we hypothesize that the copy number gain of CRBN gene might be responsible for developmental delay/intellectual disability.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 58, Issue 5, May 2015, Pages 319–323
نویسندگان
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