Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0013080 (
Down syndrome
)
14,180
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after
Down's syndrome
. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had
blepharospasm
. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.
...
PMID:Neurological findings in patients with the fragile-X syndrome. 392 Mar 55
