Practical and theoretical considerations concerning the genetics of the Rett syndrome

Brain Dev. 1987;9(5):466-8. doi: 10.1016/s0387-7604(87)80065-7.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain Diseases / genetics*
  • Depressive Disorder / genetics
  • Diseases in Twins
  • Female
  • Fragile X Syndrome
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Sex Chromosome Aberrations*
  • Syndrome
  • X Chromosome*