Carry out a mind map, summarizing the most common genetic errors and their most relevant clinical characteristics.
Genetic disorders by chromosome
CHROMOSOME NUMBER | DISORDER EXAMPLE |
3 | von Hippel-Lindau disease, renal cell carcinoma |
4 | ADPKD (PKD2), achondroplasia, Huntington disease |
5 | Cri-du-chat syndrome, familial adenomatous polyposis |
6 | Hemochromatosis |
7 | Williams syndrome, cystic fibrosis |
9 | Friedreich ataxia, tuberous sclerosis |
11 | Wilms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia), MEN1 |
13 | Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2 |
15 | Prader-Willi syndrome, Angelman syndrome, Marfan syndrome |
16 | ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia), 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) |
Get Answers For Free
Most questions answered within 1 hours.