Prenatal monitoring for the Hunter syndrome: the heterozygous female fetus.
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.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology*; D002478:Cells, Cultured; D005260:Female; D006025:Glycosaminoglycans / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D014960:X Chromosome
D006025:Glycosaminoglycans