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

doi:10.1002/ajmg.1320510431

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Article

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

American journal of medical genetics - 15 Jul 1994

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

Abstract excerpt

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....

Topics

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

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