Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region

Y Trottier; G Imbert; A Poustka; J P Fryns; J L Mandel

doi:10.1002/ajmg.1320510431

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region

Am J Med Genet. 1994 Jul 15;51(4):454-7. doi: 10.1002/ajmg.1320510431.

Authors

Y Trottier¹, G Imbert, A Poustka, J P Fryns, J L Mandel

Affiliation

¹ LGME/CNRS, Strasbourg, France.

PMID: 7943018
DOI: 10.1002/ajmg.1320510431

Abstract

We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Blotting, Southern
Fragile X Syndrome / genetics*
Gene Deletion*
Humans
Male
Phenotype
Polymerase Chain Reaction