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A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy
Author(s) -
Shoukier Moneef,
Schröder Julia,
Zoll Barbara,
Burfeind Peter,
Freiberg Clemens,
Klinge Lars,
Kriebel Thomas,
Lingen Michael,
Mohr Alexander,
Brockmann Knut
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34427
Subject(s) - macrocephaly , myopathy , comparative genomic hybridization , phenotype , intellectual disability , dilated cardiomyopathy , biology , short stature , cardiomyopathy , genetics , genotype phenotype distinction , pathology , chromosome , medicine , heart failure , endocrinology , gene
Abstract Interstitial deletions of the distal part of chromosome 2p are rare, with only six reported cases involving regions from 2p23 to 2pter. Most of these were cytogenetic investigations. We describe a 14‐year‐old boy with an 8.97 Mb deletion of 2p23.3–24.3 detected by array comparative genomic hybridization (array CGH) who had intellectual disability (ID), unusual facial features, cryptorchidism, skeletal myopathy, dilated cardiomyopathy (DCM), and postnatal overgrowth (macrocephaly and tall stature). We compared the clinical features of the present case to previously described patients with an interstitial deletion within this chromosomal region and conclude that our patient exhibits a markedly different phenotype. Additional patients are needed to further delineate phenotype–genotype correlations © 2012 Wiley Periodicals, Inc.