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
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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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
Journal: European Journal of Medical Genetics - Volume 58, Issue 5, May 2015, Pages 319–323
نویسندگان
Sorina M. Papuc, Karl Hackmann, Joris Andrieux, Catherine Vincent-Delorme, Magdalena Budişteanu, Aurora Arghir, Evelin Schrock, Andreea C. Ţuţulan-Cuniţă, Nataliya Di Donato,