PMID- 21204233
OWN - NLM
STAT- MEDLINE
DCOM- 20110517
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 155A
IP  - 1
DP  - 2011 Jan
TI  - Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES 
      features, developmental delay, and congenital heart defects.
PG  - 203-6
LID - 10.1002/ajmg.a.33766 [doi]
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.
CI  - Copyright (c) 2010 Wiley-Liss, Inc.
FAU - Cingoz, Sultan
AU  - Cingoz S
AD  - Department of Medical Biology and Genetics, Dokuz Eylul University, Izmir, 
      Turkey.
FAU - Bache, Iben
AU  - Bache I
FAU - Bjerglund, Lise
AU  - Bjerglund L
FAU - Ropers, Hans-Hilger
AU  - Ropers HH
FAU - Tommerup, Niels
AU  - Tommerup N
FAU - Jensen, Hanne
AU  - Jensen H
FAU - Brondum-Nielsen, Karen
AU  - Brondum-Nielsen K
FAU - Tumer, Zeynep
AU  - Tumer Z
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - Chromosome 14q, partial deletions
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 14/genetics
MH  - Developmental Disabilities/*genetics/pathology
MH  - Heart Defects, Congenital/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Phenotype
MH  - Plagiocephaly/*genetics/pathology
EDAT- 2011/01/05 06:00
MHDA- 2011/05/18 06:00
CRDT- 2011/01/05 06:00
PHST- 2011/01/05 06:00 [entrez]
PHST- 2011/01/05 06:00 [pubmed]
PHST- 2011/05/18 06:00 [medline]
AID - 10.1002/ajmg.a.33766 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766.