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Updated: Mar 9, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13
Catherine Turleau1,2, J de Grouchy1,2, J L Dufier3
1U. 173 I.N.S.E.R.M., Hôpital Necker-Enfants-Malades, 149, rue de Sèvres, F-75730, Paris Cedex 15, France.
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.
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