title: A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
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.
authors.affiliation: Institute of Human Genetics, Georg August University, Göttingen, Germany. moneef.shoukier@med.uni-goettingen.de
authors.forename: Moneef
authors.initials: M
authors.lastname: Shoukier
authors.forename: Julia
authors.initials: J
authors.lastname: Schröder
authors.forename: Barbara
authors.initials: B
authors.lastname: Zoll
authors.forename: Peter
authors.initials: P
authors.lastname: Burfeind
authors.forename: Clemens
authors.initials: C
authors.lastname: Freiberg
authors.forename: Lars
authors.initials: L
authors.lastname: Klinge
authors.forename: Thomas
authors.initials: T
authors.lastname: Kriebel
authors.forename: Michael
authors.initials: M
authors.lastname: Lingen
authors.forename: Alexander
authors.initials: A
authors.lastname: Mohr
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
mesh_terms: D000293:Adolescent; D057215:Body Dysmorphic Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology