Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47,XXX mother.
X-inactivation mosaicism has been proposed to explain the origin of Rett syndrome. We present the results of the cytogenetic analysis, including RBG dynamic replication pattern, in a girl with Rett syndrome. The late replicating X chromosome (LRX) showed the earlier replication of subband Xp21.2 in 36% of analysed cells. Unexpectedly the maternal karyotype 47,XXX was found. Replication timing of both maternal LRX chromosomes was normal. The critical region of Xp essential for RS is proposed.
Panasiuk
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B
Department of Clinical Genetics, Medical Academy, Bialystok, Poland.
Midro
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AT
Zadrozna-Tołwińska
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B
D000328:Adult; D002871:Chromosome Banding; D019465:Craniofacial Abnormalities / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics; D010375:Pedigree; D015518:Rett Syndrome / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*