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.
authors.affiliation: U. 173 I.N.S.E.R.M., Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.|E.R. 149 C.N.R.S., Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Turleau
authors.affiliation: U. 173 I.N.S.E.R.M., Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.|E.R. 149 C.N.R.S., Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: J
authors.initials: J
authors.lastname: de Grouchy
authors.affiliation: Service d'Ophthalmologie, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
authors.affiliation: Service d'Ophthalmologie, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: Phuc
authors.initials: P
authors.lastname: Lè Hoang
authors.affiliation: Unité d'Endocrinologie Pédiatrique, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: P H
authors.initials: PH
authors.lastname: Schmelck
authors.affiliation: Unité d'Endocrinologie Pédiatrique, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: R
authors.initials: R
authors.lastname: Rappaport
authors.affiliation: Clinique Chirurgicale Infantile, Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Nihoul-Fékété
authors.affiliation: Groupe de Pathologie Pédiatrique (I.N.S.E.R.M.U.77), Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Diebold