Vol 94, No 3 (2023)
Research paper
Published online: 2022-03-18

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Prenatal diagnosis and molecular cytogenetic characterization of Xp22.32p22.31 microduplication in a Chinese family

Weixin Cui1, Xi Li2, Yan Jin3, Juan Zhang4
Pubmed: 35315014
Ginekol Pol 2023;94(3):188-190.


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.

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