A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay

被引：2
|
作者：
Cao, Qinying [1 ]
Peng, Yuanyuan [1 ]
Ge, Jun [1 ]
Zhang, Yanhua [1 ]
Zhu, Junzhen [2 ]
Zhao, Lijuan [1 ]
机构：
[1] Shijiazhuang Obstet & Gynecol Hosp, Prenatal Diag Ctr, Shijiazhuang 050011, Hebei, Peoples R China
[2] Peoples Hosp Hebei Prov, San You Ctr, Shijiazhuang 050011, Hebei, Peoples R China
来源：
JOURNAL OF GENETICS | 2014年 / 93卷 / 01期
关键词：
mental retardation; speech delay; microcephaly; copy number variation; microdeletion; microduplication; DU-CHAT-SYNDROME; PHENOTYPE; TRANSLOCATIONS; TRISOMY; 5P;
D O I：
10.1007/s12041-014-0318-7
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：159 / 162
页数：4
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