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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Mental Retardation, X-Linked [C10.597.606.643.455]
Fragile X Syndrome [C10.597.606.643.455.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Sex Chromosome Disorders [C16.131.260.830]
Fragile X Syndrome [C16.131.260.830.300]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Sex Chromosome Disorders [C16.320.180.830]
Fragile X Syndrome [C16.320.180.830.300]
Genetic Diseases, X-Linked [C16.320.322]
Mental Retardation, X-Linked [C16.320.322.500]
Fragile X Syndrome [C16.320.322.500.500]
Heredodegenerative Disorders, Nervous System [C16.320.400]
Mental Retardation, X-Linked [C16.320.400.525]
Fragile X Syndrome [C16.320.400.525.500]

Below are MeSH descriptors whose meaning is related to "Fragile X Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Fragile X Syndrome".

publications

Timeline | Most Recent

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.

Bar chart showing 11 publications over 8 distinct years, with a maximum of 2 publications in 1998 and 2005 and 2013

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1998	2	0	2
2005	1	1	2
2008	1	0	1
2013	2	0	2
2014	1	0	1
2016	1	0	1
2018	1	0	1
2023	1	0	1

Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.

Lubala TK, Kayembe-Kitenge T, Mubungu G, Lumaka A, Kanteng G, Savage S, Luboya O, Hagerman R, Devriendt K, Lukusa-Tshilobo P. Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects. Eur J Med Genet. 2023 Sep; 66(9):104819.

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Ferreira CR, Xia ZJ, Cl?ment A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-S?nchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsj? A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 10 04; 103(4):553-567.

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Sun MK, Hongpaisan J, Alkon DL. Rescue of Synaptic Phenotypes and Spatial Memory in Young Fragile X Mice. J Pharmacol Exp Ther. 2016 May; 357(2):300-10.

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Sun MK, Hongpaisan J, Lim CS, Alkon DL. Bryostatin-1 restores hippocampal synapses and spatial learning and memory in adult fragile x mice. J Pharmacol Exp Ther. 2014 Jun; 349(3):393-401.

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Dickson PE, Corkill B, McKimm E, Miller MM, Calton MA, Goldowitz D, Blaha CD, Mittleman G. Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome. Behav Brain Res. 2013 Sep 01; 252:126-35.

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Cizmeli C, Lobel M, Franasiak J, Pastore LM. Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve. Fertil Steril. 2013 Jun; 99(7):2037-44.e3.

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Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol. 2008 Mar; 111(3):596-601.

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Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med. 2005 Apr; 7(4):246-50.

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Sundaram SK, Chugani HT, Chugani DC. Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities. Ment Retard Dev Disabil Res Rev. 2005; 11(4):325-30.

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Meyer GA, Blum NJ, Hitchcock W, Fortina P. Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder. J Pediatr. 1998 Sep; 133(3):363-5.

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