与11号环状染色体相关的先天性眼部及其他全身异常。
Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.
作者信息
Daniele S, Pecorelli F, Tiepolo L, Armellini R, Liotti F S
出版信息
Graefes Arch Clin Exp Ophthalmol. 1986;224(3):317-20. doi: 10.1007/BF02143078.
PMID:3086186
Abstract
The ocular and systemic abnormalities in a boy with ring chromosome 11 [46, XY/46, XY, r(11) (p 15.5----q25] are described. The ocular anomalies consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wölfflin nodes, and cartwheel configuration of the anterior iris leaf. The systemic changes consisted of skeletal, muscular and articular defects, obesity, cryptorchidism, and mild mental retardation.
摘要
描述了一名患有11号环状染色体[46, XY/46, XY, r(11)(p15.5----q25)]男孩的眼部和全身异常情况。眼部异常包括双侧远视、小角膜、伴有明显沃尔夫林结节的前房劈裂综合征以及虹膜前叶的车轮状结构。全身变化包括骨骼、肌肉和关节缺陷、肥胖、隐睾症以及轻度智力迟钝。
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