Term
| Information provided in genetic counseling |
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Definition
medical diagnosis and its implications in term of prognosis and possible treatment mode of inheritance of disorder risk of developing and/or transmitting disorder choices/options available for dealing with the risks
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Term
| Process of genetic counseling |
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Definition
diagnosis risk assessment communication discuss options long term contact and support
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Term
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Definition
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Term
| Problems that common in diagnosis |
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Definition
genetic heterogeneity etiologic heterogeneity |
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Term
| Definition of genetic heterogeneity |
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Definition
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Term
| Definition of etiologic heterogeneity |
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Definition
| even though firm diagnosis, several causes are possible (ex: deafness, mental retardation) |
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Term
| Problems in calculating risk |
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Definition
delay age of onset reduce penetrance use of linked markers
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Term
| How do you present the risk to patient |
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Definition
quantify qualify place in context |
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Term
| Percentage risk of transmitting multifactorial inherited disorder if two people have a child with that disorder, what is the chance the second child will have the disorder? |
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Definition
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Term
| Define non-directive counseling |
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Definition
used by genetic counselers when you encourage patients to make self directed decisions wihtout any attempt to direct them along any course of action (know counsultand has to live with the consequences) |
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Term
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Definition
mother-father brother-sister |
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Term
| Percentage of spontaneous abortions that have chromosomal abnormalities |
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Definition
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Term
| Define chromosome deletion syndrome |
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Definition
| deletions in terminal portions of chromosomes |
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Term
| Common symptoms/complications of chromosome deletion syndromes |
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Definition
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Term
examples of chromosome deletion syndromes. Chance of getting? |
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Definition
Wolf Hirshorn (del. 4p) Cri-du-Chat (del. 5p)
1/50,000 births |
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Term
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Definition
| del. 13q (14- band 1 subband 4) |
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Term
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Definition
deletion within chrom. 11p (WT1) |
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Term
| Symptoms/complications of WAGR syndrome |
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Definition
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