Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication.

Author: Lina ZENG ¹ ; Qing XU ; Lijun LI ; Lingfei WU
Author Information

1. The Affiliated Hospital of Putian College, Putian, Fujian 351100, China. ever.2000@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(8):863-866
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To provide prenatal diagnosis for a pregnant women carrying a chromosome translocations using single nucleotide polymorphism array (SNP-array).
METHODS:The fetus and its parents were subjected to chromosome karyotyping and SNP array analysis.
RESULTS: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.
CONCLUSION: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.