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9 Cards in this Set
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- Back
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What is the pattern of inheritance for Carney's Complex (AKA Carney's Syndrome)
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Autosomal dominant
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What are the clinical characteristics of Carney's Complex?
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- Myxoid lesions: cardiac myxoma, skin angiomyxoma, myxoid fibroadenoma of breast
- Pigmented and calcifying lesions: spotty skin pigmentations, epithelioid blue nevus, pigmented nodular adrenocortical hyperplasia, psammomatous melanotic schwannoma, large cell calcifying Sertoli cell tumor - Endocrine hyperactivity: pituitary adenoma -Others: chondroid hamartoma, thyroid carcinoma |
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What are the genes associated with Carney's Complex and where do they map?
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- CNC1 (AKA PRKARIA) on 17q22-24: a tumor suppressor gene which codes for type 1A regulatory subunit of the protein kinase A (PKA) holoenzyme
- CNC2 on chromosome 2p16: unknown function |
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What is the pattern of inheritance of Carney's Triad?
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Non-familial (i.e. no mode of inheritance)
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What are the clinical characteristics of Carney's Triad?
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- Women > men
- Triad of GIST, pulmonary chondroma, extra-adrenal paraganglioma |
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What are the genes associated with Carney's Triad and where do they map?
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Unknown
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What is the pattern of inheritance for McCune-Albright syndrome?
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Non-familial (i.e. no mode of inheritance)
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What are teh clinical characteristics of McCune-Albright syndrome?
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- Polyostotic fibrous dysplasia
- Cafe-au-lait skin pigmentation - Endocrinopathies: sexual precocity, hyperthyroidism, growth hormone-secreting pituitary adenomas, primary adrenal hyperplasia, Cushing syndrome |
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What is the gene associated with McCune-Albright syndrome and where does it map?
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Mosaicism for a mutation in the GNAS1 gene on chromosome 20q13
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