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A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.

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

Frattini Annalisa, Micheloni Giovanni, Musio Antonio, Antunes Marika Bini, Barbot José, Costa Emília, Seabra Patricia, Righi Rossana, Orsini Francesco, Montalbano Giuseppe, Acquati Francesco, Porta Giovanni, Pasquali Francesco, Valli Roberto

Abstract excerpt

Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies, and most patients present with intrauterine growth delay, microcephaly, and a broad spectrum of congenital abnormalities. We report a patient with a distinctive type of MVA discovered in...

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PMID: 39392177
DOI: 10.1002/ajmg.a.63901

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