The spectrum of 4q-syndrome illustrated by a case series
The spectrum of 4q-syndrome illustrated by a case series
复制标题
DOI：
10.1016/j.gene.2012.06.087
复制
发表时间：
2012-09-15
期刊：
影响因子：
3.5
通讯作者：
Huang, Taosheng
中科院分区：
文献类型：
--
作者：
Strehle, Eugen-Matthias;Gruszfeld, Dariusz;Huang, Taosheng
可通过细胞遗传学分析（标准核型分析）、荧光原位杂交 (FISH)、多重连接依赖性探针扩增 (MLPA) 或比较基因组杂交 (CGH) 检测到的 4 号染色体长臂缺失导致 4q 综合征。在这里，我们描述了 3 例 4q 综合征病例，展示了在这种情况下观察到的临床表现、诊断和预后的变化。患者1是一名女性胎儿，在14周时绒毛膜绒毛取样（CVS）后被诊断为del（4）（q33），并在18周时终止妊娠。患者2是一名5个月大的男孩，患有del(4)(q31.3)和复杂的先天性心脏病。他还患有 6p 染色体重复，并死于心力衰竭。患者 3 是一名 2 岁女孩，具有轻度畸形特征和间质缺失 del(4)(q22.1q23)。她没有重大畸形，只有轻微的发育迟缓。 (C) 2012 Elsevier B.V. 保留所有权利。
Deletions of the long arm of chromosome 4 detectable by cytogenetic analysis (standard karyotyping), fluorescent in situ hybridisation (FISH), multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridisation (CGH) cause 4q- syndrome. Here we describe 3 cases of 4q- syndrome which demonstrate the variations in clinical presentation, diagnosis and prognosis observed in this condition. Patient 1 was a female foetus diagnosed with del(4)(q33) following chorionic villus sampling (CVS) at 14 weeks, and the pregnancy was terminated at 18 weeks. Patient 2 was a 5-month-old boy with del(4)(q31.3) and complex congenital heart disease. He also had a duplication of chromosome 6p and died of cardiac failure. Patient 3 is a 2-year-old girl with mild dysmorphic features and an interstitial deletion del(4)(q22.1q23). She has no major malformations and only slight developmental delay. (C) 2012 Elsevier B.V. All rights reserved.