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== Overview ==
==Overview==
The [[diagnosis]] of fragile X syndrome is confirmed by molecular [[genetic testing]] of the [[FMR1]] gene. Patient [[DNA]] (often extracted from [[blood]]) can be analyze to look for changes in FMR1 gene. Prenatal testing is available to look for FMR1 gene alterations.


== Other Diagnostic Studies ==
==Other Diagnostic Studies==


Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by [[cytogenetic]] analysis of the long arm of the X chromosome. This technique proved unreliable for both diagnosis and carrier testing.
Fragile X syndrome was originally diagnosed by culturing [[Cell (biology)|cells]] in a folate deficient medium and then assessing the cultures for X-[[chromosome]] breakage by [[cytogenetic]] analysis of the long arm of the X chromosome. This technique proved unreliable for both diagnosis and [[Carrier generation and recombination|carrier]] testing.


The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using [[restriction endonuclease]] digestion and [[Southern blot]] analysis.
The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their [[methylation]] status using [[restriction endonuclease]] digestion and [[Southern blot]] analysis.


== References ==
==References==
{{reflist|2}}
{{reflist|2}}



Latest revision as of 20:57, 3 September 2021


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

The diagnosis of fragile X syndrome is confirmed by molecular genetic testing of the FMR1 gene. Patient DNA (often extracted from blood) can be analyze to look for changes in FMR1 gene. Prenatal testing is available to look for FMR1 gene alterations.

Other Diagnostic Studies

Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X chromosome. This technique proved unreliable for both diagnosis and carrier testing.

The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using restriction endonuclease digestion and Southern blot analysis.

References

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