Article

An iPSC-based model of Jacob Syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with X aneuploid cells

2024-06-21

Abstract excerpt

<h4>ABSTRACT</h4> Male sex chromosome aneuploidies are frequent genetic aberrations in humans characterized by additional Y or X chromosome complements. Jacob (JS) and Klinefelter syndromes (KS), carrying 47,XYY and 47,XXY chromosomes, respectively, share several clinical features, including sterility, hormonal deficits, neurocognitive delay, and skeletal-muscle defects. Despite the high incidence, a complete und...

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Literature Corpus work: 2e9bd36d-95c9-55fa-bb8f-8dac11432771
DOI: 10.1101/2024.06.18.598378

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