49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes.

doi:10.1155/genr/1368153

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Article

49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes.

Genetics research - 1 Jan 2025

Du Yufang, Liao Liangrong, Wei Xianda, Ma Yunting, Shi Meizhen, Li Chunyan, Liu Juliang, Lin Wenting, Zeng Hao, Chen Shaoke, Gui Baoheng

Abstract excerpt

49, XXXYY is a rare form of sex chromosomal aneuploidy that has been reported in 11 cases worldwide. The parental origin of the extra sex chromosomes and the specific clinical features of this condition remain unclear. We recruited a case with 49, XXXYY and performed genome-wide copy number variation analysis using next-generation sequencing. In addition, the parental origin of the extra sex chromosomes was...

Topics

Humans
Male
Phenotype
Female
DNA Copy Number Variations
Chromosomes, Human, X
Microsatellite Repeats
Aneuploidy
Klinefelter Syndrome
Adult
Sex Chromosome Aberrations

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Identifiers

PMID: 40755837
DOI: 10.1155/genr/1368153
PMCID: PMC12316498

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