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Am J Med Genet. 1993 Apr 15;46(2):142-4.

18q-mosaicism associated with Rett syndrome phenotype.

Author information

1
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

Abstract

Rett syndrome consists of a characteristic progressive encephalopathy in females. The cause of this syndrome is unknown. We present a patient with 18q-mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet clinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome.

PMID:
8484399
DOI:
10.1002/ajmg.1320460208
[Indexed for MEDLINE]

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