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Article

Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review.

Taiwanese journal of obstetrics & gynecology - 1 May 2022

Yue Fagui, Xi Qi, Zhang Xinyue, Jiang Yuting, Zhang Hongguo, Liu Ruizhi

Abstract excerpt

OBJECTIVE: Chromosome 16p11.2 deletions have been recognized as a genetic disorder with well-described postnatal phenotypes. However, the prenatal manifestations are atypical for lacking of enough evidence. CASE REPORT: Four pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) because of various indications for prenatal diagnosis: prenatal ultrasound...

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PMID: 35595456
DOI: 10.1016/j.tjog.2022.03.027

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