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

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 defici...

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Bibliographic Details
Published in:Journal of medical genetics 1995-08, Vol.32 (8), p.657-658
Main Authors: Van Hemel, J O, Schaap, C, Van Opstal, D, Mulder, M P, Niermeijer, M F, Meijers, J H
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 22
Complex syndromes
Cosmids
DiGeorge Syndrome - diagnosis
DiGeorge Syndrome - embryology
DiGeorge Syndrome - genetics
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
Pregnancy
Prenatal Diagnosis
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.32.8.657