Term
| 15q 11-13 deletions (Paternal) |
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Definition
| Prader-Willis: paternal deletion leads to retardation, short, obesity, and small feet |
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Term
| 15q 11-13 deletions (Maternal) |
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Definition
| Angelman- maternal deletion leads to witch like apperance, uncontrollable laughter and seizures |
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Term
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Definition
| Wolf-Hirschman: wide spaced eyes and cleft lip (Hint to remember, 4 wolfs eat 5 cats daily) |
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Term
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Definition
| Cirr-du-cat: shreeking crying, small head retardation (Hint to remember, 4 wolfs eat 5 cats daily) |
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Term
| 7q1 deletions- affecting the ELN Gene and LIMK1 |
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Definition
| Williams- reatarted, stenosis of aorta, hypercalcemia, (ELN- elastin; LIMK1- brain visiospacial defects) |
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Term
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Definition
Wilms Tumor: Wilms tumor of kidney, absense of iris, retardation, Gi issues
WAGR syndrome |
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Term
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Definition
| Digeorge syndrome: heart defects, thymus and parathyroid issues, hypocalcemia |
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Term
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Definition
Deep set eyes, horizontal eye brows, pointed chin
**MOST COMMON DELETION AT TElOMERE** |
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