2q部分三体综合征的眼部表现

Eye findings in partial trisomy 2q.

作者信息

Strömland K

出版信息

Ophthalmic Paediatr Genet. 1985 Apr;5(3):145-50. doi: 10.3109/13816818509006126.

Abstract

Two cases with mental retardation, kyphosis, microcephalus, typical facial features, and eye anomalies had a previously undescribed recombinant chromosome change with duplication 2(q34; qter) secondary to paternal inversion 2(pter; q34). Eye findings consisted of reduced vision, myopia, nystagmus, iris defects and fundus lesions. Deformed optic discs were found in both patients and the retinal nerve fiber layer was thinner than normal.

摘要

两例患有智力发育迟缓、脊柱后凸、小头畸形、典型面部特征和眼部异常的患者，发生了一种先前未描述的重组染色体改变，即继发于父源2号染色体倒位（2(pter; q34)）的2号染色体重复（2(q34; qter)）。眼部检查结果包括视力下降、近视、眼球震颤、虹膜缺损和眼底病变。两名患者均发现视盘变形，视网膜神经纤维层比正常情况薄。