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Carry out a mind map, summarizing the most common genetic errors and their most relevant clinical...

Carry out a mind map, summarizing the most common genetic errors and their most relevant clinical characteristics.

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Answer #1

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)
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