title: Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.
abstract: Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.
authors.affiliation: Department of Medical Biology and Genetics, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Sultan
authors.initials: S
authors.lastname: Cingöz
authors.forename: Iben
authors.initials: I
authors.lastname: Bache
authors.forename: Lise
authors.initials: L
authors.lastname: Bjerglund
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Hanne
authors.initials: H
authors.lastname: Jensen
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D059041:Plagiocephaly / Q000235:genetics* / Q000473:pathology