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This is trisomy 21 i.e. Downs syndrome

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Q: Defect on chromosome 21 where a third chromosome is present what is this defect called?
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What kind of defect is CGD?

recessive defect meaning that both copies of the chromosome must have the defect before it can be expressed. Females who have one X chromosome without the defect do not get this disease. Males, since they only have one X chromosome, get the disease


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