PMID- 9550365
OWN - NLM
STAT- MEDLINE
DCOM- 19980521
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 53
IP  - 1
DP  - 1998 Jan
TI  - 22q11.2 deletions in a series of patients with non-selective congenital heart 
      defects: incidence, type of defects and parental origin.
PG  - 63-9
AB  - Previous studies have indicated a wide spectrum of incidences of 22q11.2 
      deletions in isolated and syndromic (sporadic or familial) cases of conotruncal 
      heart defects, whereby the detection rate of the deletion varied from 65% in one 
      study to 0 in another. We analysed 110 patients with non-selective syndromic or 
      isolated non-familial congenital heart malformations by fluorescence in situ 
      hybridization (FISH) using the D22S75 DiGeorge chromosome (DGS) region probe. A 
      22q11.2 microdeletion has been detected in 9/51 (17.6%) syndromic patients. Five 
      were of maternal origin and four of paternal origin. None of the 59 patients with 
      isolated congenital cardiac defect had a 22q11.2 deletion. We compared the 
      cardiac anomalies of our patients with a 22q11.2 deletion with those of 
      previously published series and we describe types of congenital heart defects 
      which appear to be often associated with a 22q11.2 deletion. The ability to 
      detect such types of heart defects and to provide an early diagnosis of 22q11.2 
      deletion is particularly relevant in very young infants, who often show only very 
      mild expression of the otherwise well-characterized phenotypes of the 
      DiGeorge/velo-cardio-facial syndrome (DG/VCFS).
FAU - Fokstuen, S
AU  - Fokstuen S
AD  - Institut fur Medizinische Genetik der Universitat Zurich, Switzerland. 
      fokstuen@medgen.unizh.ch
FAU - Arbenz, U
AU  - Arbenz U
FAU - Artan, S
AU  - Artan S
FAU - Dutly, F
AU  - Dutly F
FAU - Bauersfeld, U
AU  - Bauersfeld U
FAU - Brecevic, L
AU  - Brecevic L
FAU - Fasnacht, M
AU  - Fasnacht M
FAU - Rothlisberger, B
AU  - Rothlisberger B
FAU - Schinzel, A
AU  - Schinzel A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Female
MH  - Heart Defects, Congenital/classification/epidemiology/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Incidence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
EDAT- 1998/04/29 00:00
MHDA- 1998/04/29 00:01
CRDT- 1998/04/29 00:00
PHST- 1998/04/29 00:00 [pubmed]
PHST- 1998/04/29 00:01 [medline]
PHST- 1998/04/29 00:00 [entrez]
AID - 10.1034/j.1399-0004.1998.531530113.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Jan;53(1):63-9. doi: 10.1034/j.1399-0004.1998.531530113.x.