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Article

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]

Developmental period medicine - 1 Jan 2000

Landowska Aleksandra, Rzońca Sylwia, Bal Jerzy, Gos Monika

Abstract excerpt

The presence of dynamic mutation in the FMR1 gene localized on the X chromosome (Xq28) is the major cause of Fragile X syndrome. As this syndrome is quite frequently diagnosed in patients with intellectual disability and autism spectrum disorders, the genetic testing of the FMR1 gene is a routine procedure performed in these patients. Molecular methods based on the PCR technique are used commonly, as they allow...

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Identifiers

PMID: 29641418
PMCID: PMC8522923

Genes

FMR1

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