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Article

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?

European journal of medical genetics - 1 Jan 2012

Makrythanasis Periklis, Gimelli Stefania, Béna Frédérique, Dahoun Sophie, Morris Michael A, Antonarakis Stylianos E, Bottani Armand

Abstract excerpt

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...

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PMID: 22080113
DOI: 10.1016/j.ejmg.2011.11.001

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