PMID: 8588495Jan 1, 1994Paper

MZ female twins discordant for X-linked diseases: a review

Acta geneticae medicae et gemellologiae
G Tiberio

Abstract

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.

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Citations

May 20, 1998·American Journal of Hematology·V ChanT K Chan
Jun 8, 2004·Annals of Human Genetics·Ian W CraigCaroline S Loat
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra J G ZwijnenburgDorret I Boomsma
Dec 15, 2010·Journal of Perinatal Medicine·Sara SilvaIsaac Blickstein
Jul 13, 2005·Proceedings of the National Academy of Sciences of the United States of America·Mario F FragaManel Esteller
Apr 28, 2009·Human Genetics·Karen Helene Orstavik
Apr 13, 2005·Journal of Biosciences·Reiner A Veitia
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Jul 25, 2009·Clinical & Experimental Ophthalmology·David A Mackey
Apr 16, 2005·American Journal of Medical Genetics. Part a·Sylvie BourthoumieuFrançoise Esclaire
Jan 7, 2006·Blood·Anuj MankadMarkus Grompe
May 22, 2019·Clinical Case Reports·Maria E Barnes-Davis, DonnaMaria E Cortezzo
Jun 1, 2010·Orphanet Journal of Rare Diseases·Louise L C PintoIda V D Schwartz

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