RECURRENCE OF DIGEORGE-SYNDROME - PRENATAL DETECTION BY FISH OF A MOLECULAR 22Q11 DELETION

Authors
VANHEMEL JO SCHAAP C VANOPSTAL D MULDER MP NIERMEIJER MF MEIJERS JHC
Citation
Jo. Vanhemel et al., RECURRENCE OF DIGEORGE-SYNDROME - PRENATAL DETECTION BY FISH OF A MOLECULAR 22Q11 DELETION, Journal of Medical Genetics, 32(8), 1995, pp. 657-658
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
8
Year of publication
1995
Pages
657 - 658
Database
ISI
SICI code
0022-2593(1995)32:8<657:ROD-PD>2.0.ZU;2-3
Abstract
We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, a nd in a subsequent pregnancy. After birth this child showed hypocalcae mia, a T cell deficit, and a right sided aortic arch.