TY - JOUR

T1 - Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

AU - Cingöz, Sultan

AU - Bache, Iben

AU - Bjerglund, Lise

AU - Ropers, Hans-Hilger

AU - Tommerup, Niels

AU - Jensen, Hanne

AU - Brøndum-Nielsen, Karen

AU - Tümer, Zeynep

N1 - Copyright © 2010 Wiley-Liss, Inc.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - 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.

AB - 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.

KW - Abnormalities, Multiple

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 14

KW - Developmental Disabilities

KW - Heart Defects, Congenital

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Male

KW - Phenotype

KW - Plagiocephaly

U2 - 10.1002/ajmg.a.33766

DO - 10.1002/ajmg.a.33766

M3 - Journal article

C2 - 21204233

VL - 155A

SP - 203

EP - 206

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -