2026 QUESTIONS WITH SOLUTIONS GRADED
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◉ In which two conditions are chromosomal abnormalities the leading
known cause? Answer: Intellectual disability and fetal miscarriage.
Chromosome abnormalities are the leading known cause of intellectual
disability and fetal miscarriage.
◉ What are three examples of prenatal diagnostic studies? Answer:
Chorionic villus sampling (CVS), amniocentesis, and preimplantation
genetic testing (PGT) are examples of prenatal diagnostic studies and are
performed in vitro. CVS is a form of genetic testing that provides
genetic information found in utero and is usually performed between
weeks 11 and 14 of pregnancy. An amniocentesis is a form of genetic
testing that evaluates amniotic fluid and is usually performed during the
second trimester, between weeks 15 and 20 of pregnancy. PGT is
performed on the embryo prior to implantation.
◉ Which genetic disorder is characterized by the presence of a zygote
having one chromosome with a normal complement of genes and one
chromosome with a missing gene? Answer: Cri du chat syndrome
(translated as "cry of the cat") is caused by a DNA deletion. This term
describes the cry often heard from a baby affected by the syndrome. Cri
, du chat syndrome can present as a microcephalic, low birth-weight baby
with a piercing cry.
◉ How can an X-linked recessive disease skip generations? Answer:
The disease can be transmitted through female carriers.
Since females have two copies of the X chromosome, the mother may
provide an unaffected X to a daughter or son. Furthermore, a daughter
may not show signs of the disease because she has the other X (the only
X the father can give to a female) to cancel it out.
◉ Which type of risk is referred to as the ratio of the disease rate among
the entire population to the disease rate in an unexposed population?
Answer: Relative risk is a ratio of probability, not an actual occurrence
of disease.
◉ What are the empirical risks for most multifactorial diseases based
on? Answer: Many factors from lifestyle to genetics affect
multifactorial diseases. Observation and evaluation of each case
individually provides the most thorough and accurate assessment.
◉ What refers to the silenced gene of a gene pair. Answer: The
imprinted gene is the silent gene of a gene pair.