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

Webb, T., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Hanefeld, F., Pereira, J. L., Rosenbloom, L. and Woods, C. G. 1998. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. Journal of Medical Genetics 35 (12) , pp. 997-1003. 10.1136/jmg.35.12.997

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ
ISSN:	1468-6244
Last Modified:	25 Oct 2022 09:53
URI:	https://orca.cardiff.ac.uk/id/eprint/60414

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