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Article

Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype.

American journal of medical genetics. Part A - 1 Aug 2025

Verscaj Courtney P, Gordon Michael, Holbrook Bradley D, Trocki Olivia Maher, Poorvu Tabitha, Miller Christina, Schwalbe Tammy, Trout Maija, Zearfoss Amy, Welker Angela, Wojcik Monica H, Elias Abdallah F

Abstract excerpt

Non-mosaic trisomy 9 (NMTS9) is a rarely described chromosomal abnormality because most affected pregnancies result in first trimester spontaneous abortions, although survival to delivery is possible. In contrast, the phenotypic features of mosaic trisomy 9 have been well described in the literature as these individuals can survive to birth and beyond. Therefore, a better understanding of the phenotypic spectrum...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 40202083
DOI: 10.1002/ajmg.a.64087
PMCID: PMC13110400

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