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7 Cards in this Set
- Front
- Back
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Wolf-hirschhorn syndrome
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deletion at 4p terminal
Greek-helmet face |
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Trisomy 13
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polydactyly
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Trisomy 18
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clenched hand
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diGeorge syndrome
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1 of only chromosomal abnormalities that can be inherited
microdeletion in chromosome 22 |
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Prader-Willi syndrome
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chromosome 15 (paternal)
microdeletion/imprinting maternal uniparental disomy abnormal methylation |
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Pallister-Killian syndrome
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must be mosaic b/c lethal otherwise
tetrasomy 12p |
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Fragile X syndrome
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CGG repeats in maternal chromosome
most common form of inherited mental retardation stable in sperm b/c decreases motility |
