A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism

1987 ◽  
Vol 17 (4) ◽  
pp. 457-468 ◽  
Author(s):  
Rhea Paul ◽  
Elizabeth Dykens ◽  
James F. Leckman ◽  
Michael Watson ◽  
W. Roy Breg ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Language Characteristics

scholarly journals XYY Karyotype in a Mentally Retarded Man with Prognathism and Malformation of His Hands and Toe Nails

2010 ◽  
Vol 13 (2) ◽  
pp. 71-73
Author(s):  
F Mahjoubi ◽  
M Akbary ◽  
Y Shafegatee
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Mentally Retarded ◽  
Mild Mental Retardation ◽  
Xyy Syndrome ◽  
Toe Nails

XYY Karyotype in a Mentally Retarded Man with Prognathism and Malformation of His Hands and Toe NailsWe report on a 25-year-old man who was referred for evaluation of possible Fragile X syndrome on the basis of mild mental retardation and malformation of his hands and toe nails. He was found not to have this syndrome but to have a 47, XYY karyotype. Only one other case of XYY syndrome with prognathism and malformation of hands has been reported.

scholarly journals Fragile X Syndrome in Mentally Retarded Patients from Latvia

2009 ◽  
Vol 63 (1-2) ◽  
pp. 70-72
Author(s):  
Zanda Daneberga ◽  
Zita Krūmiņa ◽  
Baiba Lāce ◽  
Daiga Bauze ◽  
Natālija Proņina ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Detection Rate ◽  
Fragile X ◽  
Mentally Retarded ◽  
Normal Allele ◽  
Cgg Repeat ◽  
Repeat Structure ◽  
Cgg Repeats ◽  
Intermediate Alleles

Fragile X Syndrome in Mentally Retarded Patients from Latvia The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG interspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.

Learning-disabled Males With a Fragile X CGG Expansion in the Upper Premutation Size Range

PEDIATRICS ◽  
1996 ◽  
Vol 97 (1) ◽  
pp. 122-126
Author(s):  
Randi J. Hagerman ◽  
Louise W. Staley ◽  
Rebecca O'Conner ◽  
Kellie Lugenbeel ◽  
David Nelson ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Size Range ◽  
Cpg Island ◽  
Fragile X ◽  
Learning Disabled ◽  
Full Mutation ◽  
Cgg Repeat ◽  
Responsible Gene ◽  
Repeat Segment

There is a broad spectrum of clinical involvement in both boys and girls affected by fragile X syndrome. Although this disorder is best known as the most common inherited cause of mental retardation, it also can manifest as learning disabilities in individuals with IQs in the broad range of normal. Boys are usually retarded, and girls are usually learning disabled with fragile X syndrome.1 The responsible gene, fragile X mental retardation 1 (FMR1), was isolated in 1991, and the mutation was found to involve expansion of a trinucleotide (CGG) repeat segment. Individuals with fragile X syndrome have a CGG expansion of more than 200 repeats associated with hypermethylation of both the expansion and an adjacent CpG island (full mutation).2,3

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

Prevalence of fragile X syndrome among patients with mental retardation in the west of Iran

2018 ◽  
Vol 13 (6) ◽  
pp. 464-468 ◽  
Author(s):  
Peyman Hadi ◽  
Karimeh Haghani ◽  
Ali Noori-Zadeh ◽  
Salar Bakhtiyari
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
The West

scholarly journals Role of microRNA Pathway in Mental Retardation

2007 ◽  
Vol 7 ◽  
pp. 146-154 ◽  
Author(s):  
Abrar Qurashi ◽  
Shuang Chang ◽  
Peng Jin
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Genetic Basis ◽  
Fragile X ◽  
Biological Pathways ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
Mirna Pathway ◽  
Microrna Pathway

Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP).MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides in length, which have been implicated in diversified biological pathways. Recent studies have linked the miRNA pathway to fragile X syndrome. Here we review the role of the miRNA pathway in fragile X syndrome and discuss its implication in MR in general.

PREVALENCE OF THE FRAGILE X SYNDROME IN YUGOSLAV PATIENTS WITH NON-SPECIFIC MENTAL RETARDATION

2003 ◽  
Vol 17 (2) ◽  
pp. 223-230
Author(s):  
Tamara Major ◽  
Biljana Culjkovic ◽  
Oliver Stojkovic ◽  
Marija Gucscekic ◽  
Aneta Lakic ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Fragile X
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