title: Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.
abstract: A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26)del(11)(p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13.
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D003456:Cryptorchidism / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D004407:Dysgerminoma / Q000235:genetics*; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D008297:Male; D012854:Sister Chromatid Exchange