一名患有11号染色体缺失的智障女孩出现无虹膜、白内障和性腺母细胞瘤。一份临床病理病例报告。
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.
作者信息
Andersen S R, Geertinger P, Larsen H W, Mikkelsen M, Parving A, Vestermark S, Warburg M
出版信息
Ophthalmologica. 1977;176(3):171-7. doi: 10.1159/000308711.
PMID:613291
Abstract
A case of bilateral aniridia, cataract and mental deficiency is described in a girl with an interstitial deletion of the short arm of chromosome 11. The child died of pneumonia and on autopsy bilateral gonadoblastoma was detected, but no Wilms' tumour. Partial deletion of the short arm of chromosome 11 seems to be a clinically recognizable syndrome with aniridia, cataract and renal, gonadal or genital dysmorphogenesis.
摘要
一名患有11号染色体短臂间质性缺失的女孩，出现双侧无虹膜、白内障和智力缺陷。该患儿死于肺炎，尸检发现双侧性腺母细胞瘤，但未发现肾母细胞瘤。11号染色体短臂的部分缺失似乎是一种临床上可识别的综合征，伴有无虹膜、白内障以及肾脏、性腺或生殖器发育异常。
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