Ocak, ZeynepOzlu, T.Vural, M.2024-09-252024-09-2520131015-8146https://hdl.handle.net/20.500.12491/12456Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by virtue of the accumulating literature. It can be associated with multiple congenital abnormalities and severe mental retardation. We report a case with mosaic ring chromosome 13 whose prenatal ultrasound revealed bilateral ventriculomegaly. Anal atresia, unidentifiable external genitalia, and an absent thumb were observed in the postmortem examination.eninfo:eu-repo/semantics/closedAccessAbnormal genitaliaAbsent thumbAnal atresiaMosaicRing chromosome 13Article242157160240322852-s2.0-84884321378N/A