无虹膜，男性假两性畸形，性腺母细胞瘤，智力迟钝，11p13 缺失。
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.
机构信息
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.
出版信息
Hum Genet. 1981 May;57(3):300-306. doi: 10.1007/BF00278949.
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.
一位 20 个月大的男性患者因严重生长和智力发育迟缓、双侧青光眼、尿道下裂和隐睾而被转介。核型分析显示新发复杂三染色体重排，以及 11p13 带缺失：46,XY,t(4;7;15)(q212;p14;q26)，del(11)(p13p14)。小梁切除术显示双侧无虹膜。生殖器手术显示男性假两性畸形和双侧性腺母细胞瘤。肾脏正常。CAT 活性缺乏使 CAT 基因的区域分配到 11p13 带。
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