Term
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Definition
| One gene has more than 1 effect on an individual's phenotype |
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Term
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Definition
| tendency for alleles at linked loci to occur together more often than expected by chance |
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Term
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Definition
| mutations at different loci can produce the same phenotype |
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Term
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Definition
| The presence of both normal and mutated mitochondrial DNA (in a single cell or individual person) resulting in variable expression in mitochondrial diseases. |
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Term
Prader-Willi Syndrome
inheritance
features |
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Definition
loss of paternal allele on chromosome 15
retarded, hyperphagia, obesity, hypogonadism, hypotonia |
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Term
Angelman's Syndrome
inheritance
features |
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Definition
loss of maternal allele on chromosome 15
retarded, seizures, ataxia, inappropriate laughter |
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Term
Hypophosphatemic Rickets
inheritance
defect
findings |
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Definition
X-linked dominant
increased phosphate wasting at proximal tubule
bone pain, skeletal deformities, hypocalcemia, tetany |
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Term
Robertsonian Translocation
Which ones can do it? |
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Definition
Translocation of the long arms of an acrocentric chromosome which therefore is normal.
13-15 and 21-22 |
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