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Understanding genetic disorders by chromosome is crucial for USMLE Step 1 preparation. Below is a list of major genetic disorders, categorized by the chromosome involved. This guide will help students identify key diseases associated with each chromosome, aiding both recall and clinical understanding.
Chromosome | Genetic Disorder Examples |
---|---|
3 | Von Hippel-Lindau disease, Renal cell carcinoma |
4 | ADPKD (PKD2), Achondroplasia, Huntington disease |
5 | Cri-du-chat syndrome, Familial adenomatous polyposis |
6 | Hemochromatosis (HFE) |
7 | Williams syndrome, Cystic fibrosis |
9 | Friedreich ataxia, Tuberous sclerosis (TSC1) |
11 | Wilms tumor, β-globin gene defects (e.g., sickle cell disease), MEN1 |
13 | Patau syndrome, Wilson disease, Retinoblastoma (RB1), BRCA2 |
15 | Prader-Willi syndrome, Angelman syndrome, Marfan syndrome |
16 | ADPKD (PKD1), α-globin gene defects, Tuberous sclerosis (TSC2) |
17 | Neurofibromatosis type 1, BRCA1, TP53 |
18 | Edwards syndrome |
21 | Down syndrome |
22 | Neurofibromatosis type 2, DiGeorge syndrome (22q11) |
X | Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY) |
This guide will assist you in efficiently identifying key disorders related to each chromosome and enhance your recall for USMLE Step 1.