A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.

doi:10.1016/j.gim.2024.101212

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Article

A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2024

Guess Tiffany, Wheeler Ferrin C, Yenamandra Ashwini, Schilit Samantha L P, Anderson Hannah S, Bone Kathleen M, Carstens Billie, Conlin Laura, Dulik Matthew C, Dupont Barbra R, Fanning Elizabeth, Gardner Juli-Anne, Haag Mary, Hilton Benjamin A, Johnson Jill, Kogan Jillene, Murry Jacyln, Polonis Katarzyna, Quigley Denise I, Repnikova Elena A, Rowsey Ross A, Spinner Nancy, Stoeker Mikayla, Thurston Virginia, Wiley Margaret, Zhang Lei

Abstract excerpt

PURPOSE: Klinefelter syndrome, a sex chromosome aneuploidy (SCA), is associated with a 47,XXY chromosomal complement and is diagnosed in ∼1:600 live male births. Individuals with a 46,XX cell line, in addition to 47,XXY, are less common with a limited number of published case reports. METHODOLOGY: To better understand the implications of a 47,XXY/46,XX karyotype, we conducted a retrospective, multicenter analysis...

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PMID: 39011769
DOI: 10.1016/j.gim.2024.101212

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