Ring chromosome 13 in a polymalformed anencephalic.
In the 33rd week of pregnancy an amniocentesis was performed because of low estriol. X-ray indicated the presence of anencephaly and a premature delivery was induced. Necropsy, in addition to anencephaly, showed a wide variety of malformations. The fetal karyotype determined from cultured amniotic fluid cells revealed a ring chromosome 13.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000649:Amniocentesis; D000757:Anencephaly / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy