Search on: FRAGILE X SYNDROME 
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Descriptor English:   Fragile X Syndrome 
Descriptor Spanish:   Síndrome del Cromosoma X Frágil 
Descriptor Portuguese:   Síndrome do Cromossomo X Frágil 
Synonyms English:   Fra(X) Syndrome
Fragile X Mental Retardation Syndrome
Fragile X-F Mental Retardation Syndrome
Mar (X) Syndrome
Marker X Syndrome
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Mental Retardation and Macroorchidism
FRAXA Syndromes
FRAXE Syndromes
Fragile X Syndromes
Marker X Syndromes
Martin Bell Syndrome
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
FRAXA Syndrome
FRAXE Syndrome
Martin-Bell Syndrome  
Tree Number:   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
Definition English:   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) 
See Related English:   Chromosome Fragile Sites
Chromosome Fragility
Intellectual Disability
Trinucleotide Repeat Expansion
 
History Note English:   91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   5735 
Unique Identifier:   D005600 

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