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PMID: 9863596 Published · ppublish English Journal Article

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

Journal of medical genetics ·Vol. 35 ·No. 12 ·1998-12-00 ·Pages 997-1003

Webb T, Clarke A, Hanefeld F, Pereira JL, Rosenbloom L, Woods CG

Abstract

A whole X chromosome study of families in which Rett syndrome had been diagnosed in more than one member indicated that the region between Xq27 and Xqter was the most likely region to harbour a gene which may be involved in the aetiology of the disease. Further, more detailed studies of Xq28 detected weak linkage and a higher than expected sharing of maternally inherited alleles. It is suggested that there may be more than one gene involved in the aetiology of this syndrome, particularly as the very rare families in which more than one girl is affected often show variable clinical symptoms.

MeSH Terms
Alleles Female Genetic Linkage Humans Male Pedigree Rett Syndrome/genetics X Chromosome
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Webb T
Department of Clinical Genetics, Birmingham Maternity Hospital, UK.
Clarke A
Hanefeld F
Pereira J L
Rosenbloom L
Woods C G
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.35.12.997
Published
1998-12-00
Pages
997-1003
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1051511
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.35.12.997 PMC Full Text View journal details
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