SNP阵列
产前诊断
遗传学
基因复制
核型
生物
拷贝数变化
单核苷酸多态性
胎儿
染色体
基因型
怀孕
基因
基因组
作者
Lirong Zeng,Qing Xu,Lijun Li,Lingfei Wu
出处
期刊:PubMed
日期:2020-08-10
卷期号:37 (8): 863-866
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.08.014
摘要
To provide prenatal diagnosis for a pregnant women carrying a chromosome translocations using single nucleotide polymorphism array (SNP-array).The fetus and its parents were subjected to chromosome karyotyping and SNP array analysis.A Xp22.12 microduplication was identified in the fetus with a size of 496.3 kb. Search of literature and database indicated the microduplication to be variant of unclear significance. The phenotypically normal mother has carried a 505.8 kb duplication at the same position. The father was normal for the testing. The couple decided to continue with the pregnancy and gave birth to a healthy girl at full-term. No abnormality was found during the follow-up.The Xp22.12 microduplication encompassed part of RPS6KA3 gene, which shows various features of Coffin-Lowry syndrome. Female with Xp22.12 microduplications may be asymptomatic carriers due to X chromosome inactivation. Our case may provide data for delineating the phenotype-genotype correlation of Xp22.12 microduplication.
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