Fragile X Syndrome
"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
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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
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Concept/Terms |
Fragile X Syndrome- Fragile X Syndrome
- Fragile X Syndromes
- Syndrome, Fragile X
- Syndromes, Fragile X
- Marker X Syndrome
- Marker X Syndromes
- Syndrome, Marker X
- Syndromes, Marker X
- Mental Retardation, X-Linked, Associated With Marxq28
- X-Linked Mental Retardation and Macroorchidism
- X Linked Mental Retardation and Macroorchidism
- Fragile X Mental Retardation Syndrome
- Fra(X) Syndrome
- Martin-Bell Syndrome
- Martin Bell Syndrome
- Syndrome, Martin-Bell
FRAXE Syndrome- FRAXE Syndrome
- FRAXE Syndromes
- Syndrome, FRAXE
- Syndromes, FRAXE
- Mar (X) Syndrome
FRAXA Syndrome- FRAXA Syndrome
- FRAXA Syndromes
- Syndrome, FRAXA
- Syndromes, FRAXA
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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 UAMS Profiles by year, and whether "Fragile X Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2022 | 2 | 0 | 2 | 2021 | 1 | 0 | 1 | 2008 | 1 | 0 | 1 |
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Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles over the past ten years.
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Khamoui AV, Tokmina-Roszyk D, Feresin RG, Fields GB, Visavadiya NP. Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1. Proteomics. 2022 05; 22(10):e2100157.
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Choo TH, Xu Q, Budimirovic D, Lozano R, Esler AN, Frye RE, Andrews H, Velinov M. Height and BMI in fragile X syndrome: A?longitudinal assessment. Obesity (Silver Spring). 2022 03; 30(3):743-750.
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Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866.
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Chakraborty A, Jenjaroenpun P, Li J, El Hilali S, McCulley A, Haarer B, Hoffman EA, Belak A, Thorland A, Hehnly H, Schildkraut CL, Chen CL, Kuznetsov VA, Feng W. Replication Stress Induces Global Chromosome Breakage in the Fragile X Genome. Cell Rep. 2020 09 22; 32(12):108179.
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