Clin Genet. 1979 Feb;15(2):113-7.

Prenatal monitoring for the Hunter syndrome: the heterozygous female fetus.

Kleijer WJ, Moody PD, Liebaers I, van de Kamp JJ, Niermeijer MF.

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.

PMID:: 153809; [PubMed - indexed for MEDLINE]

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Prenatal monitoring for the Hunter syndrome: the heterozygous female fetus.

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