COMPLETE VERIFIED 2026 ACTUAL
PAPER COMPLETE QUESTIONS AND
ANSWERS GRADED A+
⩥ What happens with fluid and electrolytes with aging? Answer: 1- total
body potassium concentration decreases because of decreased cellular
mass
2- the decreased cellular mass is accompanied by an increased
extracellular compartment leading to an increased sodium/potassium
ratio
⩥ What is an aneuploid cell? Answer: those that do not contain a
multiple of 23 chromosomes
⩥ What makes a trisomic cell. Answer: an aneuploid cell containing
three copies of one chromosome (Trisomy 21, 18)
⩥ What is a well known example of aneuploidy?. Answer: trisomy 21
(down syndrome)
⩥ What is trisomy 21 or down syndrome known for?. Answer: IQ
between 25-70
low nasal bridge
,protruding tongue
flat, low set ears
⩥ What is the definition of penetrance?. Answer: The percentage of
individuals with a specific genotype who also express the expected
phenotype
⩥ What is Imcomplete Penetrance?. Answer: individuals who have a
disease-causing allele may not exhibit that expected phenotype at all,
even though the allele and the associated disease may be transmitted to
the next generation
⩥ What is Huntington's disease and what are the main features?.
Answer: 1-A well-known autosomal dominant condition
2- progressive dementia and increasingly uncontrollable movements of
the limbs
⩥ When does Huntington's disease appear?. Answer: not usually seen
until 40 y/o or later due to this, Huntington's disease
⩥ what is an example of a age-dependent penetrance?. Answer:
Huntington disease
⩥ What do most genetic diseases exhibit?. Answer: variable expressivity
, ⩥ What is the definition of Expressivity?. Answer: the extent of
variation in the phenotype associated with a particular genotype
⩥ If the expressivity of a disease is variable, how is penetrance
affected?. Answer: penetrance may be complete, but the severity of the
disease can vary
⩥ What is a well-known example of variable expressivity in an
autosomal dominant disease?. Answer: Type 1 neurofibromatosis or Von
Recklinghausen disease
⩥ How does the expression of Recklinghausen disease gene express
itself?. Answer: Can vary from a few harmless cafe-au-lait spots on the
skin to malignant tumors, scoliosis, seizures, gliomas, hypertension,
learning disabilities, and neuromas
⩥ Cystic fibrosis is caused by what type of gene?. Answer: autosomal
recessive
⩥ Who does cystic fibrosis affect most?. Answer: white children-most
lethal autosomal recessive disease