Diagnosis of fragile X syndrome by direct mutation analysis

1994 ◽  
Vol 93 (2) ◽  
Author(s):  
Marja-Leena V�is�nen ◽  
Marketta K�hk�nen ◽  
Jaakko Leisti
Keyword(s):  
Fragile X Syndrome ◽  
Mutation Analysis ◽  
Fragile X ◽  
Direct Mutation

scholarly journals The new genetics in psychiatry

1995 ◽  
Vol 1 (4) ◽  
pp. 109-115
Author(s):  
Eleanor Feldman
Keyword(s):  
Clinical Practice ◽  
Health Service ◽  
Fragile X Syndrome ◽  
Mutation Analysis ◽  
Late Onset ◽  
Fragile X ◽  
Diagnostic Testing ◽  
Neuropsychiatric Disorders ◽  
Presymptomatic Testing ◽  
Direct Mutation

Advances in the understanding of the genetic causes of some neuropsychiatric disorders are having an impact on clinical practice as direct mutation analysis becomes possible. Mutation analysis is now available in UK Health Service diagnostic laboratories for Huntington's disease (HD) and the fragile X syndrome (FRAXA). Psychiatrists need to be familiar with issues surrounding presymptomatic and diagnostic testing in HD and diagnostic and carrier testing in FRAXA. They may be asked to assist clinical geneticists in the assessment of candidates for HD presymptomatic testing and a suggested mode of assessment is described here. The procedure for HD will provide the model for use with other familial neuropsychiatric disorders of late onset, notably familial Alzheimer's disease (FAD). Testing for FAD is already possible in conjunction with research laboratories in the few families where a mutation has been discovered and we shall have more tests for FAD within a few years.

Results of embryo testing using a direct mutation test for fragile X syndrome

2014 ◽  
Vol 102 (3) ◽  
pp. e172
Author(s):  
R. Prates ◽  
J. Fischer ◽  
V. Tecson ◽  
A. Beltsos ◽  
A. Maravilla ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Direct Mutation

Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis

1994 ◽  
Vol 51 (4) ◽  
pp. 501-502 ◽  
Author(s):  
Gail Kaplan ◽  
Melissa Kung ◽  
Melody McClure ◽  
Amy Cronister
Keyword(s):  
Mutation Analysis ◽  
Fragile X ◽  
Carrier Status ◽  
Direct Mutation

Living with Fragile X Syndrome

2017 ◽  
Author(s):  
◽  
Rebecca Schira ◽  
Samantha Alexander ◽  
Noelani Brisbane ◽  
Kaitlyn Williams
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X

Fragile X Syndrome and Family Occupations

2019 ◽  
Author(s):  
Decerie Mendoza ◽  
Tracy Ye ◽  
Martina Dualan ◽  
Elena Javier
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X
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