کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5905072 1569528 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
چکیده انگلیسی
Many distal deletions of chromosome 11q have been described, but reports on deletions of 11q13-q14 are rare in the literature. Here we describe the genotype and phenotype of a boy with a deletion of this region. We fine mapped the aberration with array-CGH, revealing an 18.2 Mb deletion. The main clinical features included microcephaly, ptosis and moderate developmental delay. The symptoms partially overlap with previously reported patients with a deletion in the same region.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 53, Issue 1, January–February 2010, Pages 50-53
نویسندگان
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