[Anencephaly].
One case of anencephaly is described and in connection with this case factors compatible with the development of ASP are discussed. The investigation of the parent's chromosomes revealed 46, XX/47, XXX mosaicizm at the mother. The importance of genetic consultation and the intrauterin diagnosis is stressed.
D000328:Adult; D000757:Anencephaly / Q000139:chemically induced / Q000235:genetics / Q000473:pathology*; D005260:Female; D005817:Genetic Counseling; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011296:Prenatal Diagnosis
Az anencephaliáról