Prenatal Diagnosis and Molecular Cytogenetic Characterization of Xp22.32p22.31 microduplication in a Chinese family

Ginekol Pol. 2022 Mar 22. doi: 10.5603/GP.a2021.0225. Online ahead of print.


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: Xp22.32p22.31 microduplication; chromosomal microarray analysis; mental retardation; prenatal diagnosis.