title: Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11.
abstract: We describe a patient with ambiguous genitalia, gonadoblastoma, aniridia, mental retardation and 46XY, del (11)(p13) karyotype. To our knowledge this association has been observed in only 2 patients to date.
authors: Department of Pediatric Surgery, Hospital Germans Trias Pujol, Badalona, Spain.
authors: J
authors: J
authors: Martinez-Mora
authors: L
authors: L
authors: Audi
authors: N
authors: N
authors: Toran
authors: R
authors: R
authors: Isnard
authors: A
authors: A
authors: Castellvi
authors: M
authors: M
authors: Perez Iribarne
authors: J
authors: J
authors: Egozcue
mesh_terms: D000293:Adolescent; D015783:Aniridia / Q000150:complications* / Q000235:genetics; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D012734:Disorders of Sex Development / Q000150:complications* / Q000235:genetics / Q000473:pathology; D004407:Dysgerminoma / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D010375:Pedigree