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MZ Female Twins Discordant For X-Linked Diseases: A Review

Published online by Cambridge University Press:  01 August 2014

G. Tiberio
G. Tiberio*
Affiliation:
Centro Pediatrico Internazionale “Luigi Gedda”, the Gregor Mendel Institute, Rome
*
Centro Pediatrico Internazionale “Luigi Gedda”, the Gregor Mendel Institute, 5 Piazza Galeno, 00162, Roma

Abstract

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The 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the affected twin) or skewing in one twin and random in the cotwin. The diseases involved map in two specific regions: Xq27-28 and Xp21. The only exceptions are Fabry's disease and Aicardi's syndrome, which map in Xq22 and Xp22 respectively. No concordant MZ female carrier twins, either normal or affected, have been described. Three main hypotheses have been proposed to explain such characteristics [2, 5, 14], but none is completely satisfactory. The constant discordance for X-linked diseases in MZ female twins has important consequences for genetic counselling.

Keywords

MZ twinsX-linked recessive diseasesDiscordance in MZ twins
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 43 , Issue 3-4 , October 1994 , pp. 207 - 214
Copyright
Copyright © The International Society for Twin Studies 1994

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