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

AUTOR(ES)

Webb, T

RESUMO

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.

Documentos Relacionados

• Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
• Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
• Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
• A compositional map of human chromosome band Xq28.
• TaqI RFLP identified by probe 1A1 [DXS374] at Xq28.