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Chromosome vs. Syndrome (Hematologic malignancy associated mutations…
Chromosome vs. Syndrome
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13=Rb gene (Retinoblastoma, Osteosarcoma)
11=Wilms tumor, Sickle cell disease, Beta-thalassemia, Ataxia telangiectasia
9=CML, Freidreich’s ataxia, Tuberous sclerosis
X=Fragile X, Kallmann’s syndrome, Lesch-Nyhan, Rett, Duchenne Muscular Dystrophy
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16=alpha thalassemia, ADPKD
4=ADPKD (PKD2 gene), Huntington
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19= hemiplegic migraine, episodic ataxia
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15q=Prader-Willi, Angelman
15=Marfan syndrome
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