Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

2016 ◽  
Vol 30 (5) ◽  
pp. 970-974 ◽  
Author(s):  
Wilmar Saldarriaga ◽  
Fabian Andres Ruiz ◽  
Flora Tassone ◽  
Randi Hagerman
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X

scholarly journals MosaicFMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

2008 ◽  
Vol 146A (10) ◽  
pp. 1358-1367 ◽  
Author(s):  
Bradford Coffee ◽  
Morna Ikeda ◽  
Dejan B. Budimirovic ◽  
Lawrence N. Hjelm ◽  
Walter E. Kaufmann ◽  
...  
Keyword(s):  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Review Of The Literature

Validation of Hagerman’s behavioral phenotype for fragile X syndrome among men with intellectual disability

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Jacques Bellavance ◽  
Morin Diane ◽  
Catherine Mello
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Design Methodology ◽  
Fragile X ◽  
Behavioral Phenotype ◽  
Care Providers ◽  
Content Type

Purpose The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults. Design/methodology/approach A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers. Findings Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome. Originality/value This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1

2021 ◽  
Vol 1751 ◽  
pp. 147205
Author(s):  
Valérie Côté ◽  
Ève Lalancette ◽  
Inga S. Knoth ◽  
Lucie Côté ◽  
Kristian Agbogba ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Tuberous Sclerosis ◽  
Fragile X Syndrome ◽  
Tuberous Sclerosis Complex ◽  
Fragile X ◽  
Repetition Suppression

Discourse Skills of Boys With Fragile X Syndrome in Comparison to Boys With Down Syndrome

2007 ◽  
Vol 50 (2) ◽  
pp. 475-492 ◽  
Author(s):  
Joanne Roberts ◽  
Gary E. Martin ◽  
Lauren Moskowitz ◽  
Adrianne A. Harris ◽  
Jamila Foreman ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Discourse Skills
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