| AS | acetylstrophanthidin; acidified serum; acoustic schwannoma; acoustic stimulation; active sarcoidosis... |
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| AS | Angelman |
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| angelman syndrome | <syndrome> A dysmorphic mental retardation syndrome, that has generated considerable interest in human genetics as a prototypic example of genomic imprinting in man. Usually a sporadic disorder, it is characterised by profound intellectual deficiency, a striking puppet-like ataxic gait and facial features, paroxysmal laughter and seizures. These features are responsible for its alternative designation as happy puppet syndrome. An interstitial deletion at chromosome band 15q12 was identified and can be detected in a large proportion of cases and the defect is linked to the GABA receptor gene. Chromosome haplotyping will always reveal the deletion to be carried on the maternally-derived chromosome 15, alternatively, Angelman syndrome can be caused by uniparental disomy for the paternal chromosome 15. In both cases, this suggests that Angelman syndrome results from loss or disruption of a gene (or genes) on chromosome 15 that must be inherited through the maternal gamete in order to be properly expressed. The opposite phenomenon is seen in the Prader-Willi syndrome, in which a deletion of a nearby region on chromosome 15q is found on the paternally-derived chromosome, or there can be uniparental disomy for the maternally derived chromosome. Thus, both disorders seem to represent examples of genes which are subject to imprinting. (16 Dec 1997) |
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| Angelman's syndrome |
(An
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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| Angelman's syndrome |
A genetic disorder caused by abnormal function of the gene UBE3A. It causes developmental problems, speech impairment and seizures.
출처: www.biobasics.gc.ca/english/View.asp
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| Angelman's s. |
an autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed facies, and seizures. It can be caused by a deletion on chromosome 15 inherited from the mother; the same deletion inherited from the father causes Prader-Willi syndrome.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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