title: Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Suleymaniye Maternity Hospital for Research and Training, Istanbul, Turkey. zeynep_ipek@yahoo.com
authors.forename: Z
authors.initials: Z
authors.lastname: Ocak
authors.forename: T
authors.initials: T
authors.lastname: Ozlu
authors.forename: M
authors.initials: M
authors.lastname: Vural
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001006:Anus, Imperforate / Q000000981:diagnostic imaging / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D005836:Genitalia, Female / Q000002:abnormalities / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D012303:Ring Chromosomes; D013933:Thumb / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal; D055815:Young Adult