"Fragile X Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
| Descriptor ID |
D005600
|
| MeSH Number(s) |
C10.597.606.643.455.500 C16.131.260.830.300 C16.320.180.830.300 C16.320.322.500.500 C16.320.400.525.500
|
| Concept/Terms |
Fragile X Syndrome- Fragile X Syndrome
- Fragile X Syndromes
- Syndrome, Fragile X
- Syndromes, Fragile X
- Fragile X Mental Retardation Syndrome
- X-Linked Mental Retardation and Macroorchidism
- X Linked Mental Retardation and Macroorchidism
- Martin-Bell Syndrome
- Martin Bell Syndrome
- Syndrome, Martin-Bell
- Mental Retardation, X-Linked, Associated With Marxq28
- Fra(X) Syndrome
- Marker X Syndrome
- Marker X Syndromes
- Syndrome, Marker X
- Syndromes, Marker X
FRAXE Syndrome- FRAXE Syndrome
- FRAXE Syndromes
- Syndrome, FRAXE
- Syndromes, FRAXE
- Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
- Fragile X-F Mental Retardation Syndrome
- Mar (X) Syndrome
FRAXA Syndrome- FRAXA Syndrome
- FRAXA Syndromes
- Syndrome, FRAXA
- Syndromes, FRAXA
|
Below are MeSH descriptors whose meaning is more general than "Fragile X Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Fragile X Syndrome".
This graph shows the total number of publications written about "Fragile X Syndrome" by people in this website by year, and whether "Fragile X Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2022 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership Fragile X Syndrome. Sci Rep. 2024 10 03; 14(1):22982.
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Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient With Fragile X Syndrome. J Pediatr Ophthalmol Strabismus. 2022 Jul-Aug; 59(4):e39-e41.
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Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome. J Neurosci Methods. 2022 04 01; 371:109501.
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Decisions to participate in fragile X and other genomics-related research: Native American and African American voices. J Cult Divers. 2009; 16(3):127-35.
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A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. J Pediatr. 1996 Oct; 129(4):611-4.