Interstitial deletion 4q and Rieger syndrome
Interstitial deletion 4q and Rieger syndrome
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4q 间质缺失和 Rieger 综合征
作者：
I. Ligutić;L. Brečević;I. Petković;T. Kalogjera;Z. Rajić
在一名9岁女孩中，基于特征性先天性眼部和牙齿异常，确诊为Rieger综合征，这是一种表现力可变的常染色体显性遗传疾病。细胞遗传学分析显示4q的从头间质缺失。
In a 9‐year‐old girl, the diagnosis of the Rieger syndrome, an autosomal dominant disorder of variable expressivity, was established on the basis of characteristic congenital ocular and dental anomalies. Cytogenetic analysis revealed a de novo interstitial deletion of 4q.