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A 34-year-old member asked:

Can you tell me about the difference between chromosomal abnormalities and single gene disorders?

1 doctor answer5 doctors weighed in
Dr. Gregory Sysyn
Pediatrics 29 years experience
Generally speaking..: Chromosomal disorders are disorders of entire chromosomes. Remember, we have 23 pairs of chromosomes for 46 total. Downs syndrome is a 3rd copy of chromosome #21 in its entirety. A single gene disorder would be disorders like sickle cell, cystic fibrosis or thalessemia. In which the chromosome looks and is normal, but the gene at that site on the specific chromosome is specific to the disease.
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Last updated Mar 18, 2017
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