✦ LIBER ✦

Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X

✍ Scribed by Journal, Hubert ;Melki, Judith ;Turleau, Catherine ;Munnich, Arnold ;de Grouchy, Jean

Book ID: 101446426
Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 459 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350130

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✦ Synopsis

Rett syndrome (RS) was diagnosed in a girl with a t(X;22)(p11.22;pll). 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.

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