Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

J O Van Hemel; C Schaap; D Van Opstal; M P Mulder; M F Niermeijer; J H Meijers

doi:10.1136/jmg.32.8.657

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

J Med Genet. 1995 Aug;32(8):657-8. doi: 10.1136/jmg.32.8.657.

Authors

J O Van Hemel¹, C Schaap, D Van Opstal, M P Mulder, M F Niermeijer, J H Meijers

Affiliation

¹ Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.

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, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.

Publication types

Case Reports

MeSH terms

Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 22*
Cosmids
DiGeorge Syndrome / diagnosis
DiGeorge Syndrome / embryology*
DiGeorge Syndrome / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Pregnancy
Prenatal Diagnosis*