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Rett syndrome (RS) is a complex and severely disabling neurologic disorder, restricted to females. As non-random X inactivation could indicate that the X chromosome has a role in the etiology of the syndrome, we performed molecular analysis based on the differential methylation of the active and inactive X chromosomes with probe M27beta, taking into account the parental origin of the two Xs, in 24 RS girls (including a pair of concordant monozygote twins), 22 mothers, and a control group of 30 normal women. The results showed a significantly (Fisher's exact test) increased frequency of skewed X inactivation in lymphocytes from 15/23 RS compared with 4/22 mothers (P = 0.0031) and 6/30 controls (P = 0.0021). Our results, together with those from the literature, showed that as a group, RS patients are apparently more prone to skewed X inactivation than their mothers and normal controls, and this suggests that the X chromosome is somehow involved in RS etiology.
A C Krepischi, and
F Kok, and
P G Otto
January 1990,
Brain & development,
A C Krepischi, and
F Kok, and
P G Otto
August 2002,
American journal of medical genetics,
A C Krepischi, and
F Kok, and
P G Otto
May 1994,
Clinical genetics,
A C Krepischi, and
F Kok, and
P G Otto
September 2006,
Zhonghua er ke za zhi = Chinese journal of pediatrics,
A C Krepischi, and
F Kok, and
P G Otto
June 2005,
Brain & development,
A C Krepischi, and
F Kok, and
P G Otto
November 2006,
European journal of human genetics : EJHG,
A C Krepischi, and
F Kok, and
P G Otto
December 1992,
Clinical genetics,
A C Krepischi, and
F Kok, and
P G Otto
January 2012,
Frontiers in psychiatry,
A C Krepischi, and
F Kok, and
P G Otto
December 2001,
Brain & development,
A C Krepischi, and
F Kok, and
P G Otto
February 1996,
Human genetics,
