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DeCS
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Descriptor English:
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Fragile X Syndrome
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Descriptor Spanish:
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síndrome del cromosoma X frágil
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Descriptor Portuguese:
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Síndrome do Cromossomo X Frágil
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Synonyms English:
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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:
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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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Definition English:
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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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See Related English:
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Chromosome Fragile Sites
Chromosome Fragility
Intellectual Disability
Trinucleotide Repeat Expansion
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History Note English:
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91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90
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Allowable Qualifiers English:
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Record Number:
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5735
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Unique Identifier:
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D005600
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Occurrence in VHL:
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Similar:
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DeCS
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