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Prenatal monitoring for the Hunter syndrome: The heterozygous female fetus
Author(s) -
KLEIJER W. J.,
MOOY P. D.,
LIEBAERS I.,
KAMP J. J. P. VAN DE,
NIERMEIJER M. F.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01749.x
Subject(s) - fetus , prenatal diagnosis , karyotype , amniotic fluid , hunter syndrome , loss of heterozygosity , pregnancy , heterozygote advantage , medicine , obstetrics , biology , genetics , genotype , chromosome , allele , gene
An abnormal level of 35 S‐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.