EARLIER FINISHING OF XP21.2 SUBBAND REPLICATION OF THE INACTIVE X-CHROMOSOME IN RETT-SYNDROME GIRL BUT NOT IN HER 47,XXX MOTHER

Authors
PANASIUK B MIDRO AT ZADROZNATOLWINSKA B
Citation
B. Panasiuk et al., EARLIER FINISHING OF XP21.2 SUBBAND REPLICATION OF THE INACTIVE X-CHROMOSOME IN RETT-SYNDROME GIRL BUT NOT IN HER 47,XXX MOTHER, Clinical genetics, 52(2), 1997, pp. 120-125
Citations number
27
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
52
Issue
2
Year of publication
1997
Pages
120 - 125
Database
ISI
SICI code
0009-9163(1997)52:2<120:EFOXSR>2.0.ZU;2-L
Abstract
X-inactivation mosaicism has been proposed to explain the origin of Re tt syndrome. We present the results of the cytogenetic analysis, inclu ding RBG dynamic replication pattern, in a girl with Rett syndrome. Th e late replicating X chromosome (LRX) showed the earlier replication o f subband Xp21.2 in 36% of analysed cells. Unexpectedly the maternal k aryotype 47,XXX was found. Replication timing of both maternal LRX chr omosomes was normal. The critical region of Xp essential for RS is pro posed.