PMID- 12673657
OWN - NLM
STAT- MEDLINE
DCOM- 20040106
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 118A
IP  - 3
DP  - 2003 Apr 30
TI  - Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for 
      submicroscopic deletions.
PG  - 260-6
AB  - CHARGE syndrome is a distinctive subgroup within the more heterogeneous group of 
      patients with CHARGE association. While significant progress has been made in the 
      clinical delineation of this syndrome, the molecular basis of the disorder 
      remains unknown. Based on the complex phenotype, some overlap with 
      DiGeorge/velocardiofacial syndrome (DGS/VCFS), and its estimated population 
      incidence, we hypothesized that CHARGE syndrome could be caused by an 
      unidentified genomic microdeletion. In order to address this hypothesis, we 
      carried out a genome-wide screen for loss of expected heterozygosity using 811 
      microsatellite markers in ten CHARGE syndrome subjects and their unaffected 
      parents. Eight markers gave results suggestive of failure to inherit one parental 
      allele. These loci were tested with fluorescence in situ hybridization (FISH), 
      but none showed evidence of deletion. This screen sets upper limits on the length 
      of a CHARGE-related microdeletion, should that be the genetic mechanism 
      underlying the phenotype.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Lalani, Seema R
AU  - Lalani SR
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas 77030, USA.
FAU - Stockton, David W
AU  - Stockton DW
FAU - Bacino, Carlos
AU  - Bacino C
FAU - Molinari, Laura M
AU  - Molinari LM
FAU - Glass, Nancy L
AU  - Glass NL
FAU - Fernbach, Susan D
AU  - Fernbach SD
FAU - Towbin, Jeffrey A
AU  - Towbin JA
FAU - Craigen, William J
AU  - Craigen WJ
FAU - Graham, John M Jr
AU  - Graham JM Jr
FAU - Hefner, Margaret A
AU  - Hefner MA
FAU - Lin, Angela E
AU  - Lin AE
FAU - McBride, Kim L
AU  - McBride KL
FAU - Davenport, Sandra L
AU  - Davenport SL
FAU - Belmont, John W
AU  - Belmont JW
LA  - eng
GR  - HD22657-11/HD/NICHD NIH HHS/United States
GR  - HD39056/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (DNA, Complementary)
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Alleles
MH  - Blotting, Southern
MH  - Chromosome Mapping
MH  - DNA, Complementary/metabolism
MH  - *Gene Deletion
MH  - Genetic Markers
MH  - Genotype
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Loss of Heterozygosity
MH  - Microsatellite Repeats
MH  - Phenotype
MH  - Polymorphism, Genetic
MH  - Syndrome
EDAT- 2003/04/04 05:00
MHDA- 2004/01/07 05:00
CRDT- 2003/04/04 05:00
PHST- 2003/04/04 05:00 [pubmed]
PHST- 2004/01/07 05:00 [medline]
PHST- 2003/04/04 05:00 [entrez]
AID - 10.1002/ajmg.a.20002 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Apr 30;118A(3):260-6. doi: 10.1002/ajmg.a.20002.