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Article

Proximal 1q21 duplication: A syndrome or a susceptibility locus?

American journal of medical genetics. Part A - 1 Oct 2023

Levy Michal, Shohat Mordechai, Kahana Sarit, Matar Reut, Klein Kochav, Fishman Ifat Agmon, Gurevitch Merav, Basel-Salmon Lina, Maya Idit

Abstract excerpt

Proximal 1q21 microduplication is an incomplete penetrance and variable expressivity syndrome. This study reports 28 new cases and summarizes data on phenotype, gender, and parental origin. Data on isolated proximal 1q21.1 microduplications (g. chr1:145,394,956-145,762,959 GRCh37/hg19) was retrieved in postnatal and prenatal "clinical cases" group, and prenatal "control group." The "clinical cases" cases included...

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PMID: 37357910
DOI: 10.1002/ajmg.a.63333

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