کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5904962 1569498 2013 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
چکیده انگلیسی

Deletions of the long arm of chromosome 4 are rare but have been previously reported to be associated with craniofacial anomalies, digital anomalies, developmental delay, growth failure, and cardiovascular anomalies [1-6]. Strehle et al. [1] previously presented 20 patients with 4q deletions and began to construct a phenotype-genotype map for chromosome 4q. This report follows up on that work by providing clinical and molecular cytogenetic data on a three generation pedigree including seven patients with short stature, dysmorphic features, and developmental delay identified to have a 4q27-q28.1 microdeletion of approximately 5.68 Mb by oligonucleotide chromosomal microarray. This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported [7,8]. The contribution of candidate genes in the region is discussed.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 56, Issue 9, September 2013, Pages 521-525
نویسندگان
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