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Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications.

American journal of medical genetics. Part A - 1 Feb 2026

Molinari Sharon, Williams Niecy, Haskell Gloria, Penton Andrea, Arreola Alexandra, Gadi Inder, Phillips Karen, Tepperberg Jim, Schwartz Stuart

Abstract excerpt

This study investigates the frequency, ascertainment, and clinical implications of whole chromosomal isodisomy using a database of over 415,000 chromosomal microarray (CMA) tests conducted since 2008 across prenatal, postnatal, and products of conception specimens. In this cohort, 0.04% of cases exhibited the rare chromosomal phenomenon of isodisomy. Analysis of these cases revealed distinct patterns in...

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PMID: 40977560
DOI: 10.1002/ajmg.a.64265

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