Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects

Patients with unbalanced X‐autosome translocations are rare and usually present a skewed X‐chromosome inactivation (XCI) pattern, with the derivative chromosome being preferentially inactivated, and with a possible spread of XCI into the autosomal regions attached to it, which can inactivate autosom...

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Veröffentlicht in:American journal of medical genetics. Part A 2021-08, Vol.185 (8), p.2295-2305
Hauptverfasser: Favilla, Bianca Pereira, Meloni, Vera Ayres, Perez, Ana Beatriz, Moretti‐Ferreira, Danilo, Souza, Deise Helena, Bellucco, Fernanda Teixeira, Melaragno, Maria Isabel
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Sprache:eng
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