Journel H, Melki J, Turleau C, Munnich A, de Grouchy J
Institut Gregor Mendel, Vannes, France.
Am J Med Genet. 1990 Jan;35(1):142-7. doi: 10.1002/ajmg.1320350130.
Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a "forme fruste" of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.
