Dundar M, Uzak A, Erdogan M, Saatci C, Akdeniz S, Luleci G, Keser I, Karauzum S
Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey.
Genet Couns. 2011;22(2):199-205.
Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly and characteristic facial features. Although the phenotype of the patient has similarities with Cornelia de Lange Syndrome they are etiologically different. We report here a 9 months old baby boy with partial duplication of 3q and features similar with Cornelia De Lange syndrome. Conventional cytogenetic analysis revealed a derivative chromosome 21. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of all these cytogenetic studies and the physical examinations, the diagnosis is partial 3q duplication.
3q部分重复是一种罕见的染色体疾病，可导致多种先天性异常，如生长发育迟缓、小头畸形和特征性面部特征。尽管该患者的表型与科妮莉亚·德朗格综合征有相似之处，但它们在病因上是不同的。我们在此报告一名9个月大的男婴，患有3q部分重复且具有与科妮莉亚·德朗格综合征相似的特征。传统细胞遗传学分析显示有一条衍生的21号染色体。为了确定该染色体区域的起源，我们使用了亚端粒荧光原位杂交技术。基于所有这些细胞遗传学研究结果和体格检查，诊断为3q部分重复。
