Prenatal diagnosis and molecular cytogenetic characterization of Xp22.32p22.31 microduplication in a Chinese family
Abstract
Objectives: To explore the relationship between Xp22.32p22.31 microduplication and mental retardation identifiable by chromosomal G-banding and chromosomal microarray analysis (CMA). Material and methods: Chromosomal G-banding, CMA, and physical and mental examinations were performed on four members of a Chinese family. Results: The mother and one baby had the same microduplication (arr[GRCh37] Xp22.32p22.31(5970505-6075215)x2), and the baby had mental retardation. Conclusions: Xp22.32p22.31 microduplication in males could cause mental retardation. Combination of NIPT, prenatal ultrasound, chromosomal G-banding and CMA has high accuracy in risk assessment for prenatal diagnosis.
Keywords: prenatal diagnosisXp22.32p22.31 microduplicationchromosomal microarray analysismental retardation
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