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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1981 Oct;18(5):359–361. doi: 10.1136/jmg.18.5.359

Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy.

P Donnai, D Donnai, R Harris, R Stephens, E Young, S Campbell
PMCID: PMC1048757  PMID: 7328615

Abstract

An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and counselling in twin pregnancies are discussed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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