Practical and theoretical considerations concerning the genetics of the Rett syndrome.
The Rett syndrome is exclusively found in girls. Considerable interest has been focused on a possible genetic background. The evidence for such an etiology is not conclusive and the findings in support of such a hypothesis are given. The few twin data and family data together with the chromosomal investigation indicate an X-linked inheritance. The recurrence risk in a family with one Rett girl is about 0.3%. Prenatal diagnosis is not recommended for the time being, as the only diagnosis, possible is prenatal sexing and most girls are healthy as the recurrence risk is low.
Wahlström
J
J
Department of Clinical Genetics, University of Göteborg, Sweden.
D001927:Brain Diseases / Q000235:genetics*; D003866:Depressive Disorder / Q000235:genetics; D004200:Diseases in Twins; D005260:Female; D005600:Fragile X Syndrome; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D014960:X Chromosome