Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication].
СтатьяНазвание и аннотация: Перевод в очереди
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Zeng Lina, Xu Qing, Li Lijun, Wu Lingfei
Аннотация
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.
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.