Ocak, ZeynepÖzlü, TülayVural, Mehmet2021-06-232021-06-2320131015-8146https://www.proquest.com/openview/d5065132ad9aa8a98d2c4451a05742ad/1?cbl=36889&parentSessionId=EnRTV9EAai9des0dyP0JROOyhBNOl62i4bUW1vR9Xy0%3D&pq-origsite=gscholar&accountid=15310https://hdl.handle.net/20.500.12491/7651Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13: Because 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 13Article24215716024032285N/AWOS:000337197200004Q4