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Review
. 2009;17(5):649-58.
doi: 10.1007/s10577-009-9052-z.

Monosomy for the X chromosome

Carolyn A Bondy  1 , Clara Cheng
Affiliations
Review

Monosomy for the X chromosome

Carolyn A Bondy et al. Chromosome Res. 2009.

Abstract

Dosage compensation serves to equalize X chromosome gene expression in mammalian males and females and involves extensive silencing of the 2nd X chromosome in females. If dosage compensation mechanisms completely suppressed the 2nd X chromosome, then actual physical loss of this "eXtra" chromosome should have few consequences. However, X monosomy has major effects upon normal development, fertility and longevity in humans and some other species. This article reviews observations and arguments attempting to explain the phenotypic effects of X monosomy in humans and other mammals in terms of X chromosome gene dosage.

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