Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11.
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.
Martinez-Mora
J
J
Department of Pediatric Surgery, Hospital Germans Trias Pujol, Badalona, Spain.
Audi
L
L
Toran
N
N
Isnard
R
R
Castellvi
A
A
Perez Iribarne
M
M
Egozcue
J
J
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