Mosaicism in Turner's syndrome

Wolfram Henn () and Klaus D. Zang
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Wolfram Henn: Institut für Humangenetik, Universität des Saarlandes
Klaus D. Zang: Institut für Humangenetik, Universität des Saarlandes

Nature, 1997, vol. 390, issue 6660, 569-569

Abstract: Abstract Skuse et al.1 report that females with Turner's syndrome who have retained the paternal X chromosome (Xp) tend to achieve better cognition and social adjustment scores than those with the maternal X (Xm). As sex-chromosome mosaicism is frequent in Turner's syndrome, we argue that the presence of residual Y chromosomal sequences in the brain, which is exclusively possible in Xm Turner patients, might be a realistic alternative to the hypothesis of an imprinted X-linked locus as a reason for the behavioural differences between Xm and Xp Turner patients.

Date: 1997
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DOI: 10.1038/37514

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