PMID- 9483643
OWN - NLM
STAT- MEDLINE
DCOM- 19980319
LR  - 20161124
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 18
IP  - 1
DP  - 1998 Jan
TI  - Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
PG  - 68-72
AB  - Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become 
      possible since it was recognized that this syndrome is caused by a submicroscopic 
      deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal 
      heart defect and polyhydramnios, the del 22q11 was made prenatally by 
      fluorescence in situ hybridization (FISH) after amniocentesis. Seven additional 
      patients with a del 22q11 were identified, who presented during pregnancy with 
      polyhydramnios. In one of them, unilateral hydronephrosis was present. These 
      findings further add to a growing list of clinical presentations of a del 22q11 
      and suggest that in patients with polyhydramnios and a conotruncal heart defect 
      or uropathy, fetal karyotyping should be complemented by FISH for a del 22q11.
FAU - Devriendt, K
AU  - Devriendt K
AD  - Centre for Human Genetics, University Hospital Leuven, Belgium.
FAU - Van Schoubroeck, D
AU  - Van Schoubroeck D
FAU - Eyskens, B
AU  - Eyskens B
FAU - Vantrappen, G
AU  - Vantrappen G
FAU - Swillen, A
AU  - Swillen A
FAU - Gewillig, M
AU  - Gewillig M
FAU - Dumoulin, M
AU  - Dumoulin M
FAU - Moerman, P
AU  - Moerman P
FAU - Vandenberghe, K
AU  - Vandenberghe K
FAU - Fryns, J P
AU  - Fryns JP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Amniocentesis
MH  - *Chromosomes, Human, Pair 22
MH  - Craniofacial Abnormalities/*diagnosis/genetics
MH  - Fatal Outcome
MH  - Female
MH  - *Gene Deletion
MH  - Heart Defects, Congenital/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Polyhydramnios/*diagnostic imaging
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Syndrome
MH  - Tetralogy of Fallot/genetics
MH  - Truncus Arteriosus, Persistent/genetics
MH  - Ultrasonography, Prenatal
EDAT- 1998/03/04 03:03
MHDA- 2000/06/20 09:00
CRDT- 1998/03/04 03:03
PHST- 1998/03/04 03:03 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/03/04 03:03 [entrez]
AID - 10.1002/(SICI)1097-0223(199801)18:1<68::AID-PD211>3.0.CO;2-I [pii]
PST - ppublish
SO  - Prenat Diagn. 1998 Jan;18(1):68-72.