Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis,Molecular Genetics & Genomic Medicine

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Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2023-06-20 , DOI: 10.1002/mgg3.2229
Sufen Zhang ₁ , Yuqiu Zhou ₁ , Gefei Xiao ₁ , Xianrong Qiu ₁

Affiliation

The identification of genetic mosaicism and the genetic counseling needed following its discovery have been challenging problems in the field of prenatal diagnosis. Herein, we describe the clinical phenotypes and various prenatal diagnostic processes used for two rare cases of 9p duplication mosaicism and review the prior literature in the field to evaluate the merits of different methods for diagnosing mosaic 9p duplication.

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