Journal article

Family data in Rett syndrome: Association with other genetic disorders

H Leonard, S Fyfe, D Dye, A Hockey, J Christodoulou

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | BLACKWELL SCIENCE ASIA | Published : 2000

Abstract

BACKGROUND: Rett syndrome is a neurological disorder, almost exclusively affecting girls. METHODOLOGY: Between 1993 and 1995 pedigree data were obtained from families of girls registered with the Australian Rett syndrome database. RESULTS: Although 21 individual disorders were reported to be present in family members of affected girls, there was no apparent clustering of the same disorder in different families. However it was certain that a geneticist had been involved in only 10.9% of cases. CONCLUSIONS: Mutations in the MECP2 gene have now been reported in a proportion of sporadic cases. Thus, it will be important to examine this phenotype-genotype correlation in the Australian cohort. Whe..

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