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...

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Bibliographic Details
Published in:Clinical genetics 1997-08, Vol.52 (2), p.120-125
Main Authors: Panasiuk, Barbara, Midro, Alina T., Zadrożna-Tolwińska, Barbara
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Chromosome aberrations
Chromosome Banding
Craniofacial Abnormalities - genetics
Dosage Compensation, Genetic
Female
Humans
Infant
Karyotyping
Male
Medical genetics
Medical sciences
Mosaicism - genetics
Pedigree
RBG dynamic banding pattern
replication-timing
Rett syndrome
Rett Syndrome - genetics
short arm of the X chromosome
triple-X
Trisomy - genetics
X chromosome
X Chromosome - genetics
X chromosome inactivation
Xp21.2 subband
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.1997.tb02529.x