Pathophysiology Exam 1 With
correct Answers
Marfan Syndrome
Tay-Sachs disease - ANSWER-Coronary artery disease
Fortification of foods with folic acid has resulted in a significant reduction in the
incidence of - ANSWER-neural tube defects
Which of the following chromosomal abnormalities can result in an inheritable form of
trisomy?
Nondisjunction during meiosis
Balanced translocation
Insertion
Deletion - ANSWER-Balanced translocation
Which type of hemoglobin is produced during sickle-cell crisis? - ANSWER-HbS
Mitochondrial gene disorders are transmitted to - ANSWER-both daughters and sons
Mitochondrial genes produce proteins involved in - ANSWER-energy metabolism
What is a manifestation of Down Syndrome? - ANSWER-Epicanthal eye folds
Which prenatal test(s) diagnose Down Syndrome? - ANSWER-Karyotype
What is the risk of a mother with the genetic mutation that causes Fragile-X
syndrome passing the gene on to an offspring? - ANSWER-50% of males affected
Which chromosomal abnormality is incompatible with life? - ANSWER-Monosomy 21
Affects females only - ANSWER-Turner syndrome
The target of damage in Huntington's Disease - ANSWER-nerve tissue
Maternal serum alpha-fetoprotein (MSAFP) is a screening test for which condition? -
ANSWER-Spina Bifida
A patient comes to the clinic concerned about a painless lymph node in the neck. A
diagnosis of lymphoma is made. Which of the following would indicate the lymphoma
was Hodgkin lymphoma?
The location of the enlarged lymph nodes
The presence of Reed-Sternberg cells