Summary
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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Turleau, C., de Grouchy, J., Dufier, J.L. et al. Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. Hum Genet 57, 300–306 (1981). https://doi.org/10.1007/BF00278949
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DOI: https://doi.org/10.1007/BF00278949