| Descriptor English: | Fragile X Syndrome | ||||||
| Descriptor Spanish: |
Síndrome del Cromosoma X Frágil
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| Descriptor Portuguese: | Síndrome do Cromossomo X Frágil | ||||||
| Descriptor French: | Syndrome du chromosome X fragile | ||||||
| Entry term(s): |
FRAXA Syndrome FRAXA Syndromes FRAXE Syndrome FRAXE Syndromes Fra(X) Syndrome Fragile X Mental Retardation Syndrome Fragile X Syndromes Fragile X-F Mental Retardation Syndrome Mar (X) Syndrome Marker X Syndrome Marker X Syndromes Martin Bell Syndrome Martin-Bell Syndrome Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Mental Retardation, X-Linked, Associated With Marxq28 Syndrome, FRAXA Syndrome, FRAXE Syndrome, Fragile X Syndrome, Marker X Syndrome, Martin-Bell Syndromes, FRAXA Syndromes, FRAXE Syndromes, Fragile X Syndromes, Marker X X Linked Mental Retardation and Macroorchidism X-Linked Mental Retardation and Macroorchidism |
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| Tree number(s): |
C10.597.606.360.455.500 C16.131.260.830.300 C16.320.180.830.300 C16.320.322.500.500 C16.320.400.525.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D005600 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Mental Retardation/genetics (1966-1982) Sex Chromosomes (1968-1982) X Chromosome (1978-1982) |
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| Public MeSH Note: | 91; was see under SEX CHROMOSOME ABNORMALITIES 1983-90 |
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| History Note: | 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90 |
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| Related: |
Chromosome Fragile Sites
MeSH Chromosome Fragility MeSH Intellectual Disability MeSH Trinucleotide Repeat Expansion MeSH | ||||||
| DeCS ID: | 5735 | ||||||
| Unique ID: | D005600 | ||||||
| NLM Classification: | QS 677 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1982/04/22 | ||||||
| Revision Date: | 2018/06/30 |
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Fragile X Syndrome
- Preferred
FRAXE Syndrome
- Narrower
FRAXA Syndrome
- Narrower
| Concept UI |
M0008811 |
| Scope note | 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) |
| Preferred term | Fragile X Syndrome |
| Entry term(s) |
Fra(X) Syndrome Fragile X Mental Retardation Syndrome Fragile X Syndromes Marker X Syndrome Marker X Syndromes Martin Bell Syndrome Martin-Bell Syndrome Mental Retardation, X-Linked, Associated With Marxq28 Syndrome, Fragile X Syndrome, Marker X Syndrome, Martin-Bell Syndromes, Fragile X Syndromes, Marker X X Linked Mental Retardation and Macroorchidism X-Linked Mental Retardation and Macroorchidism |
| Concept UI |
M0335752 |
| Preferred term | FRAXE Syndrome |
| Entry term(s) |
FRAXE Syndromes Fragile X-F Mental Retardation Syndrome Mar (X) Syndrome Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Syndrome, FRAXE Syndromes, FRAXE |
| Concept UI |
M0335751 |
| Preferred term | FRAXA Syndrome |
| Entry term(s) |
FRAXA Syndromes Syndrome, FRAXA Syndromes, FRAXA |
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