Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes.
In repeat amniotic fluid cultures mosaicism due to trisomy 9 was noted. Autopsy of the aborted female fetus showed a sinus urogenitalis and gonadal dysgenesis with absence of germ cells only. Fetal lymphocytes and skin fibroblasts had a normal karyotype but trisomy 9 was found in cells grown from placenta. It is likely that trisomic cells were limited to fetal membranes.
D000328:Adult; D000649:Amniocentesis; D002906:Chromosomes, Human, 6-12 and X; D003937:Diagnosis, Differential; D005321:Extraembryonic Membranes; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy