Genetic Disorders by Chromosome: A Comprehensive Review

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07/10/23

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Question: What genetic disorders are associated with chromosome 3?
Answer: von Hippel-Lindau disease and renal cell carcinomaQuestion: What genetic disorders are associated with chromosome 4?
Answer: ADPKD (PKD2) and achondroplasia, Huntington diseaseQuestion: What genetic disorders are associated with chromosome 5?
Answer: Cri-du-chat syndrome and familial adenomatous polyposisQuestion: What genetic disorders are associated with chromosome 6?
Answer: Hemochromatosis (HFE)Question: What genetic disorders are associated with chromosome 7?
Answer: Williams syndrome and cystic fibrosisQuestion: What genetic disorders are associated with chromosome 9?
Answer: Friedreich ataxia and tuberous sclerosis (TSC1)Question: What genetic disorders are associated with chromosome 11?
Answer: Wilms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia), MEN1Question: What genetic disorders are associated with chromosome 13?
Answer: Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2Question: What genetic disorders are associated with chromosome 15?
Answer: Prader-Willi syndrome, Angelman syndrome, Marfan syndromeQuestion: What genetic disorders are associated with chromosome 16?
Answer: ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia), tuberous sclerosis (TSC2)Question: What genetic disorders are associated with chromosome 17?
Answer: Neurofibromatosis type 1, BRCA1, TP53 (Li-Fraumeni syndrome)Question: What genetic disorders are associated with chromosome 18?
Answer: Edwards syndromeQuestion: What genetic disorders are associated with chromosome 21?
Answer: Down syndromeQuestion: What genetic disorders are associated with chromosome 22?
Answer: Neurofibromatosis type 2, DiGeorge syndrome (22q11)Question: What genetic disorders are associated with chromosome X?
Answer: Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY) Question: What is von Hippel-Lindau disease?
Answer: von Hippel-Lindau disease is a genetic disorder caused by mutations in the VHL gene, which is located on chromosome 3. It is characterized by the formation of tumors and cysts in various organs of the body, such as the brain, spine, eyes, and kidneys.Question: What is ADPKD?
Answer: ADPKD, or autosomal dominant polycystic kidney disease, is a genetic disorder that causes the formation of multiple cysts in the kidneys and other organs. It is caused by mutations in the PKD1 or PKD2 genes, which are located on chromosomes 16 and 4 respectively.Question: What is achondroplasia?
Answer: Achondroplasia is a genetic disorder that causes abnormal bone growth and short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, located on chromosome 4.Question: What is Huntington disease?
Answer: Huntington disease is a progressive, inherited disorder that causes the degeneration of nerve cells in the brain. It is characterized by movement problems, psychiatric symptoms, and cognitive decline. It is caused by a mutation in the HTT gene, located on chromosome 4.Question: What is Cri-du-chat syndrome?
Answer: Cri-du-chat syndrome is a rare genetic disorder caused by a missing piece of chromosome 5. It is characterized by a distinctive cry in infants, as well as developmental delays, intellectual disability, and physical abnormalities.Question: What is familial adenomatous polyposis?
Answer: Familial adenomatous polyposis (FAP) is a rare genetic disorder that causes the formation of multiple polyps in the colon and rectum. It is caused by a mutation in the APC gene, located on chromosome 5, and can lead to colorectal cancer if not treated. Question: What is Hemochromatosis?
Answer: Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is deposited in various organs, such as the liver, heart, and pancreas, leading to damage and dysfunction. Hemochromatosis is caused by mutations in the HFE gene, located on chromosome 6.Question: What is Willia"