Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (2) , 113-117
- https://doi.org/10.1111/j.1399-0004.1979.tb01749.x
Abstract
An abnormal level of 35S-sulfate labeled mucopolysaccharides was found in cultured amniotic fluid cells from a pregnancy, at risk for the Hunter syndrome, with a female fetal karyotype. Subsequent prenatal analyses suggested heterozygosity for the X-linked Hunter syndrome, and this was confirmed by clonal analysis of fibroblasts of the child after birth. The possible implications of abnormal biochemical results in association with a female karyotype in the prenatal diagnosis of the Hunter syndrome are discussed.This publication has 12 references indexed in Scilit:
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