title: Ring chromosome 13 and ambiguous genitalia.
abstract: Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.
authors.affiliation: Kocaeli University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Kocaeli, Turkey. E-ma-il: elozdr@gmail.com.
authors.forename: Elif
authors.initials: E
authors.lastname: Ozsu
authors.forename: Gül
authors.initials: G
authors.lastname: Yeşiltepe Mutlu
authors.forename: Belkıs
authors.initials: B
authors.lastname: Ipekçi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012303:Ring Chromosomes