PMID- 9660062
OWN - NLM
STAT- MEDLINE
DCOM- 19980911
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 53
IP  - 5
DP  - 1998 May
TI  - Deletion in chromosome region 22q11 in a child with CHARGE association.
PG  - 408-10
AB  - We present a female child with features of the CHARGE association, including iris 
      coloboma, large ventricular septum defect (VSD), external ear abnormalities, 
      severe growth retardation and moderate mental delay. A submicroscopic deletion in 
      chromsome 22q11 was detected by means of fluorescence in situ hybridization 
      (FISH) using probe DO832. The clinical features in this child compromise 
      characteristics of both the velo-cardio-facial syndrome (VCFS) and the cat-eye 
      syndrome. This may suggest the presence of a more complex rearrangement of 22q, 
      with a deletion-duplication.
FAU - Devriendt, K
AU  - Devriendt K
AD  - Center for Human Genetics, University Hospital Leuven, Belgium. 
      koen.devriendt@med.kuleuven.ac.be
FAU - Swillen, A
AU  - Swillen A
FAU - Fryns, J P
AU  - Fryns JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Craniofacial Abnormalities/genetics
MH  - Ear/abnormalities
MH  - Eye Abnormalities/genetics
MH  - Female
MH  - Growth Disorders/genetics
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
EDAT- 1998/07/11 00:00
MHDA- 1998/07/11 00:01
CRDT- 1998/07/11 00:00
PHST- 1998/07/11 00:00 [pubmed]
PHST- 1998/07/11 00:01 [medline]
PHST- 1998/07/11 00:00 [entrez]
AID - 10.1111/j.1399-0004.1998.tb02755.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 May;53(5):408-10. doi: 10.1111/j.1399-0004.1998.tb02755.x.