PATHOLOGY MCQ
GENETICS AND DISEASE
Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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Missing or extra chromosomes
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All genetic disorders
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Cystic Fibrosis
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Huntington’s Disease
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Detailed explanation-1: -A karyotype test checks the chromosomes in your cells to: See whether you have a full set of 46 chromosomes. Having too many or too few chromosomes can cause serious problems with health, growth, and normal development, such as Down syndrome (extra chromosome 21) and Turner syndrome (missing X chromosome).
Detailed explanation-2: -This test can help identify genetic problems as the cause of a disorder or disease. Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.
Detailed explanation-3: -A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Detailed explanation-4: -Down syndrome (trisomy 21). A baby has an extra, or third, chromosome 21. Edwards syndrome (trisomy 18). A baby has an extra 18th chromosome. Patau syndrome (trisomy 13). A baby has an extra 13th chromosome. Klinefelter syndrome. Turner syndrome. 30-Aug-2022