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[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Authors
  • Jiang, Sheng-ling
  • Bao, Xin-hua
  • Song, Fu-ying
  • Pan, Hong
  • Li, Mei-rong
  • Wu, Xi-ru
Type
Published Article
Journal
Zhonghua er ke za zhi. Chinese journal of pediatrics
Publication Date
Sep 01, 2006
Volume
44
Issue
9
Pages
648–652
Identifiers
PMID: 17217653
Source
Medline
License
Unknown

Abstract

The XCI distribution pattern of RTT patients was different from that of RTT mother and control groups. There was no significant difference in XCI distribution patterns between mothers and the control groups. It was not a main genetic pattern in RTT that mothers as the carriers to transmit the pathogenic gene to the patients. Non-random XCI was not the main XCI pattern in RTT patients. The priority inactive X chromosome was mainly of paternal origin. XCI could modify the clinical phenotype of RTT, but had limitations in explaining all the phenotypes manifested in RTT cases.

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