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Öğe Anal atresia, abnormal genitalia, and absent thumb: Congenital malformations associated with mosaic ring chromosome 13(2013) Ocak, Zeynep; Ozlu, T.; Vural, M.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.
