کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5904916 1569503 2013 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?
چکیده انگلیسی
We describe three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion who share common clinical features: neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper airways infections, developmental delay and severe growth impairment. One of the patients carries a smaller deletion and presents a milder phenotype. We propose that 3q26.33-3q27.2 microdeletion may represent a novel condition caused by the haploinsufficiency of dosage sensitive genes, several of which are involved in brain development.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 56, Issue 4, April 2013, Pages 216-221
نویسندگان
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