کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2814249 1569516 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype?
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype?
چکیده انگلیسی

We report a male patient, offspring of a consanguineous marriage between first cousins, with cognitive impairment, autistic-like behavior, deafness, postaxial polydactyly, and mild dysmorphic features. aCGH revealed a 600 kb homozygous deletion of 4p15.1 (from 33.553 to 34.159 Mb in NCBI36 hg18) encoding several transcripts of unknown function. Both parents are heterozygous for the deletion and the non-affected brother is homozygous for the normal alleles. We hypothesize that this deletion is likely to contribute to the phenotype of the patient. This case underlines the contribution of aCGH in discovering potentially pathogenic CNVs in consanguineous matings.


► Homozygous deletion of a gene-free region of chromosome 4p15.
► Patient with mental handicap, autistic-like features, deafness, postaxial polydactyly and mild dysmorphism.
► Could biallelic loss of conserved, non-coding elements lead to a phenotype?

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 55, Issue 1, January 2012, Pages 63–66
نویسندگان
, , , , , , ,