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
SN - 1552-4825
VL - 155A
SP - 203
EP - 206
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 1
ER -