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Article

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

American journal of medical genetics - 1 Jan 1990

Journel H, Melki J, Turleau C, Munnich A, de Grouchy J

Abstract excerpt

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...

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Source

Identifiers

PMID: 2301467
DOI: 10.1002/ajmg.1320350130

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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