کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814695 1569549 2006 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
چکیده انگلیسی

Deletions of the 2q37 region are associated with a recognizable pattern of MCA/MR so-called the AHO-like syndrome. Brachydactyly is a variable but characteristic feature of this clinical entity. Here we report on five cases of cytogenetically visible de novo deletions of this 2q37 chromosome region. Using FISH, we characterized at the molecular level the breakpoints of these deletions using a set of 15 BACs, PACs and YACs. In four patients, terminal deletions of variable size ranged between 6.2 and 10 Mb. The fifth patient had an interstitial deletion with an AHO-like phenotype including brachydactyly. These findings when compared to previous observations allowed us to narrow down the brachydactyly critical region between BACs RP11-585E12 and RP11-351E10. It contains HDAC4 and STK25 candidate genes loci.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 49, Issue 3, May–June 2006, Pages 255–263
نویسندگان
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