scholarly journals Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

1994 ◽  
Vol 31 (1) ◽  
pp. 76-78 ◽  
Author(s):  
M I Tejada ◽  
E Mornet ◽  
E Tizzano ◽  
M Molina ◽  
M Baiget ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Turner's Syndrome ◽  
Obligate Carrier ◽  
Turner’S Syndrome ◽  
Carrier Female

Molecular diagnosis of Fragile X syndrome

2009 ◽  
Vol 9 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Christalena Sofocleous ◽  
Aggeliki Kolialexi ◽  
Ariadni Mavrou
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X

scholarly journals Simplified Molecular Diagnosis of Fragile X Syndrome by Fluorescent Methylation-Specific PCR and GeneScan Analysis

2006 ◽  
Vol 52 (8) ◽  
pp. 1492-1500 ◽  
Author(s):  
Youyou Zhou ◽  
Josephine MS Lum ◽  
Gare-Hoon Yeo ◽  
Jennifer Kiing ◽  
Stacey KH Tay ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Southern Blot ◽  
Molecular Diagnosis ◽  
Blot Analysis ◽  
Southern Blot Analysis ◽  
Fragile X ◽  
Molecular Diagnostic ◽  
Methylation Specific Pcr ◽  
Specific Pcr ◽  
Cgg Repeats

Abstract Background: Fragile X syndrome (FXS), the most common cause of inherited mental impairment, is most commonly related to hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5′ untranslated region of the FMR1 gene. Southern blot analysis is the most commonly used method for molecular diagnosis of FXS. We describe a simplified strategy based on fluorescent methylation-specific PCR (ms-PCR) and GeneScan™ analysis for molecular diagnosis of fragile X syndrome. Methods: We used sodium bisulfite treatment to selectively modify genomic DNA from fragile X and normal lymphoblastoid cell lines and from patients. We then performed ms-PCR amplification using fluorescently-labeled primers complementary to modified methylated or unmethylated DNA. Amplification products were resolved by capillary electrophoresis. FMR1 mutational status was determined by a combination of fluorescent peak sizes and patterns on the GeneScan electropherogram. Results: DNA samples from male and female persons with known NL, PM, and FM FMR1 CGG repeats were analyzed. Each FMR1 genotype produced a unique GeneScan electropherogram pattern, thus providing a way to identify the various disease states. The number of CGG repeats in all NL and PM alleles were determined accurately. Analysis by both the new assay and Southern blot of a family segregating with FXS showed complete concordance between both methods. Conclusions: This simplified molecular diagnostic test, based on fluorescent methylation-specific PCR, may be a suitable alternative or complement to Southern blot analysis for the diagnosis of FXS.

scholarly journals Molecular diagnosis of Turner's syndrome.

1992 ◽  
Vol 29 (8) ◽  
pp. 547-551 ◽  
Author(s):  
C Gicquel ◽  
S Cabrol ◽  
H Schneid ◽  
F Girard ◽  
Y Le Bouc
Keyword(s):  
Molecular Diagnosis ◽  
Turner's Syndrome ◽  
Turner’S Syndrome

Molecular Diagnosis of Fragile X Syndrome Using Methylation Sensitive Techniques in a Cohort of Patients With Intellectual Disability

2014 ◽  
Vol 50 (4) ◽  
pp. 368-376 ◽  
Author(s):  
Adeel G. Chaudhary ◽  
Ibtessam R. Hussein ◽  
Adel Abuzenadah ◽  
Mamdouh Gari ◽  
Randa Bassiouni ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X

Five years of molecular diagnosis of Fragile X syndrome (1997-2001): A collaborative study reporting 95% of the activity in France

2004 ◽  
Vol 129A (3) ◽  
pp. 218-224 ◽  
Author(s):  
Val�rie Biancalana ◽  
Ch�rif Beldjord ◽  
Agn�s Taillandier ◽  
Sylvie Szpiro-Tapia ◽  
V�ronica Cusin ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Collaborative Study

scholarly journals Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan

PLoS ONE ◽  
2015 ◽  
Vol 10 (4) ◽  
pp. e0122213 ◽  
Author(s):  
Madiha Kanwal ◽  
Saadia Alyas ◽  
Muhammad Afzal ◽  
Atika Mansoor ◽  
Rashda Abbasi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Unknown Origin

Apparently Unstable Normal FMR1 Alleles in Nine Developmentally Delayed Patients: Implications for Molecular Diagnosis of the Fragile X Syndrome

2000 ◽  
Vol 4 (3) ◽  
pp. 235-239 ◽  
Author(s):  
J. Tzountzouris ◽  
D. Kennedy ◽  
M. Skuterud ◽  
M. Connolly-Wilson ◽  
J.J.A. Holden ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Molecular Diagnosis ◽  
Fragile X ◽  
Developmentally Delayed
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