CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11

Authors
BURN J TAKAO A WILSON D CROSS I MOMMA K WADEY R SCAMBLER P GOODSHIP J
Citation
J. Burn et al., CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATED WITH A DELETION WITHIN CHROMOSOME-22Q11, Journal of Medical Genetics, 30(10), 1993, pp. 822-824
Citations number
14
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
30
Issue
10
Year of publication
1993
Pages
822 - 824
Database
ISI
SICI code
0022-2593(1993)30:10<822:CAFSIA>2.0.ZU;2-S
Abstract
The conotruncal anomaly face syndrome was described in a Japanese publ ication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similariti es to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis i n five cases did not show a deletion at high resolution, but fluoresce nt in situ hybridisation using probe DO832 showed a deletion within ch romosome 22q11 in all cases.