Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
Open Access
- 1 August 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (8) , 657-658
- https://doi.org/10.1136/jmg.32.8.657
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.Keywords
This publication has 9 references indexed in Scilit:
- Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.Journal of Medical Genetics, 1993
- DiGeorge syndrome: part of CATCH 22.Journal of Medical Genetics, 1993
- DiGeorge syndrome: an historical review of clinical and cytogenetic features.Journal of Medical Genetics, 1993
- Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridizationHuman Genetics, 1993
- Possible role for COMT in psychosis associated with velo-cardio-facial syndromeThe Lancet, 1992
- Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.1992
- A prospective cytogenetic study of 36 cases of DiGeorge syndrome.1992
- Deletions within chromosome 22q11 in familial congenital heart diseaseThe Lancet, 1992
- Antenatal diagnosis of DiGeorge syndromeThe Lancet, 1991