An Effective Strategy of Using Molecular Testing to Screen Mentally Retarded Individuals for Fragile X Syndrome

2001 ◽  
Vol 10 (1) ◽  
pp. 34-40 ◽  
Author(s):  
Ching–Cherng Tzeng ◽  
Shio–Jean Lin ◽  
Yung–Jung Chen ◽  
Pao–Lin Kuo ◽  
Yuh–Jyh Jong ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Molecular Testing ◽  
Effective Strategy

scholarly journals Anthropometric comparison of mentally retarded males with and without the fragile X syndrome

1991 ◽  
Vol 38 (2-3) ◽  
pp. 260-268 ◽  
Author(s):  
Merlin G. Butler ◽  
G. Andrew Allen ◽  
Judy L. Haynes ◽  
Dharmdeo N. Singh ◽  
Michael S. Watson ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded

scholarly journals Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)

Genes ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 136
Author(s):  
Karen Kengne Kamga ◽  
Séraphin Nguefack ◽  
Khuthala Minka ◽  
Edmond Wonkam Tingang ◽  
Alina Esterhuizen ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Sub Saharan Africa ◽  
Rural Setting ◽  
Premature Menopause ◽  
Molecular Testing ◽  
Full Mutation ◽  
Cgg Repeat ◽  
Cgg Repeats

Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.

Screening for fragile X syndrome: results from a school for mentally retarded children

2007 ◽  
Vol 91 (5) ◽  
pp. 535-539 ◽  
Author(s):  
S Hec̀imovic̀ ◽  
I Petek Tarnik ◽  
I Baric̀ ◽  
Ž Čkarun ◽  
K Pavelic̀
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Mentally Retarded Children

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males

1996 ◽  
Vol 97 (6) ◽  
pp. 808-812 ◽  
Author(s):  
Luciana A. Haddad ◽  
Regina C. Mingroni-Netto ◽  
Angela M. Vianna-Morgante ◽  
Sérgio D. J. Pena
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded

Nonradioactive DNA diagnosis of fragile X syndrome in Japanese mentally retarded males

1994 ◽  
Vol 11 (2) ◽  
pp. 142
Author(s):  
Eiji Nanba ◽  
Yoshiyasu Kono ◽  
Atue Matuda ◽  
Mitue Yano ◽  
Tikako Sato ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Dna Diagnosis

scholarly journals DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

1994 ◽  
Vol 51 (4) ◽  
pp. 482-485 ◽  
Author(s):  
Ans M. W. van den Ouweland ◽  
Bert B. A. de Vries ◽  
P. Lida G. Bakker ◽  
Wout H. Deelen ◽  
Esther de Graaff ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Dna Diagnosis
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