10-05-2006, 08:20 PM
1. The wife of a 48-year-old male patient brings him to the emergency room and says that his memory
has progressively gotten worse over the last several years. She also says his personality has
been changing. The physician notes abnormal writhing movements of the man's limbs and
hyperreactive reflexes. MRI reveals a loss of volume in the neostriatum and cortex. This disease
is inherited via an
A. autosomal dominant trait
B. autosomal recessive trait
C. x-linked dominant trait
D. x-linked recessive trait
2. On physical examination, a newborn is found to have micrognathia, a prominent occiput, low-set
ears, and rocker-bottom feet. There is very little mental development during the first months of
life and the infant dies of cardiac complications after 8 months. A complete karyotype of this
child would yield which of the following?
A. XO
B. XXY
C. Trisomy 13
D. Trisomy 18
E. Trisomy 21
3.A 20-year-old develops weakness accompanied by difficulty in relaxation that is most pronounced
in the hands and feet. Muscle biopsy demonstrates prominent ring fibers, centrally located
nuclei, chains of nuclei, and disorganized sarcoplasmic masses. This condition has been
associated with a mutation on which of the following chromosomes?
A. X
B. Y
C. 4
D. 5
E. 19
4.Which of the following diseases has an X-linked recessive inheritance pattern?
A. Alpha1-antitrypsin deficiency
B. Cystic fibrosis
C. Duchenne muscular dystrophy
D. Phenylketonuria
E. Tay-Sachs disease
5.Microscopic examination of a cancer cell reveals a cell in an abnormal telophase in which three
clusters of chromosomes are seen. An abnormality of which of the following would be most likely
to produce this alteration?
A. Chiasma
B. Mitotic spindle
C. Mosaicism
D. Polar body
E. Synapsis
has progressively gotten worse over the last several years. She also says his personality has
been changing. The physician notes abnormal writhing movements of the man's limbs and
hyperreactive reflexes. MRI reveals a loss of volume in the neostriatum and cortex. This disease
is inherited via an
A. autosomal dominant trait
B. autosomal recessive trait
C. x-linked dominant trait
D. x-linked recessive trait
2. On physical examination, a newborn is found to have micrognathia, a prominent occiput, low-set
ears, and rocker-bottom feet. There is very little mental development during the first months of
life and the infant dies of cardiac complications after 8 months. A complete karyotype of this
child would yield which of the following?
A. XO
B. XXY
C. Trisomy 13
D. Trisomy 18
E. Trisomy 21
3.A 20-year-old develops weakness accompanied by difficulty in relaxation that is most pronounced
in the hands and feet. Muscle biopsy demonstrates prominent ring fibers, centrally located
nuclei, chains of nuclei, and disorganized sarcoplasmic masses. This condition has been
associated with a mutation on which of the following chromosomes?
A. X
B. Y
C. 4
D. 5
E. 19
4.Which of the following diseases has an X-linked recessive inheritance pattern?
A. Alpha1-antitrypsin deficiency
B. Cystic fibrosis
C. Duchenne muscular dystrophy
D. Phenylketonuria
E. Tay-Sachs disease
5.Microscopic examination of a cancer cell reveals a cell in an abnormal telophase in which three
clusters of chromosomes are seen. An abnormality of which of the following would be most likely
to produce this alteration?
A. Chiasma
B. Mitotic spindle
C. Mosaicism
D. Polar body
E. Synapsis