کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814233 1569534 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Left-ventricular non-compaction (LVNC): A clinical feature more often observed in terminal deletion 1p36 than previously expected
چکیده انگلیسی

Deletion of 1p36 (OMIM 607872) is estimated to be the most common distal terminal deletion syndrome. We describe a previously unreported, typically affected two-month-old girl with this microdeletion syndrome, who additionally suffers from left-ventricular non-compaction (LVNC). Recently, this congenital heart defect, characterized by prominent left-ventricular trabeculae and deep intertrabecular recesses, was reported in 12 further patients (excluding those reported only in abstract form) with terminal deletion of 1p36, leading to the conclusion that this cardiomyopathy is common in patients with this chromosomal aberration. We hypothesize that a gene in 1p36 might be responsible for LVNC.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 51, Issue 6, November–December 2008, Pages 685–688
نویسندگان
, , , ,