Name: Score:
47 Multiple choice questions
,Definition 1 of 47
Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. FISH
testing for 15q11 deletion was negative. The BEST next step in testing would be to draw blood from
the affected individual, his mother, and which of the following other individuals?
A. I:1 and I:2
B. I:2 and I:4
C. II:2 and III:3
D. I:3 and III:3
Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome.
A 3yearold girl is referred for a genetic evaluation. Her medical record states that she has
several large café au lait spots, multiple longbone fractures, and recent onset of menstrual
bleeding. Which of the following is the MOST likely diagnosis?
A. Noonan syndrome
B. McCuneAlbright syndrome
C. neurofibromatosis
D. osteogenesis imperfecta
Usher syndrome is an autosomal recessive disorder that includes deafness and which of the
following?
A. anosmia
B. retinitis pigmentosa
C. goiter
D. kidney disease
A 12yearold girl is referred for a genetic evaluation to rule out a syndrome after having
been diagnosed with colon polyps. The abnormal results of which of the following would
be MOST supportive of a diagnosis of familial adenomatous polyposis?
A. ophthalmologic evaluation
B. audiologic testing
C. brain MRI
D. abdominal ultrasound
, Term 2 of 47
A 28yearold female is seen by a genetic counselor during her second pregnancy because she
reports that her first pregnancy was diagnosed with thanatophoric dysplasia. No records are
available to confirm this. In order to substantiate the diagnosis, it is BEST to ask whether the fetus
had which of the following in addition to shortened limbs?
cloverleaf skull
fractures
ambiguous genitalia
polydactyly
Term 3 of 47
Discussion of artificial insemination with donor sperm is MOST appropriate for couples who have
a
daughter with cleft lip and palate.
daughter with limb girdle muscular dystrophy.
son with Becker muscular dystrophy.
son with KearnsSayre syndrome.
Term 4 of 47
A 40yearold man is referred to the genetics clinic by his internist. He has chronic fatigue, joint
pain in his hands and neck, and type 2 diabetes. Complete blood count, thyroid function studies,
and lipid profiles are within the normal
ranges, but serum ferritin levels are increased. Which of the following is the MOST likely
diagnosis?
acute intermittent porphyria
Fabry disease
hemochromatosis
Wilson disease
47 Multiple choice questions
,Definition 1 of 47
Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome. FISH
testing for 15q11 deletion was negative. The BEST next step in testing would be to draw blood from
the affected individual, his mother, and which of the following other individuals?
A. I:1 and I:2
B. I:2 and I:4
C. II:2 and III:3
D. I:3 and III:3
Individual III:2 in the pedigree below is clinically suspected to have Angelman syndrome.
A 3yearold girl is referred for a genetic evaluation. Her medical record states that she has
several large café au lait spots, multiple longbone fractures, and recent onset of menstrual
bleeding. Which of the following is the MOST likely diagnosis?
A. Noonan syndrome
B. McCuneAlbright syndrome
C. neurofibromatosis
D. osteogenesis imperfecta
Usher syndrome is an autosomal recessive disorder that includes deafness and which of the
following?
A. anosmia
B. retinitis pigmentosa
C. goiter
D. kidney disease
A 12yearold girl is referred for a genetic evaluation to rule out a syndrome after having
been diagnosed with colon polyps. The abnormal results of which of the following would
be MOST supportive of a diagnosis of familial adenomatous polyposis?
A. ophthalmologic evaluation
B. audiologic testing
C. brain MRI
D. abdominal ultrasound
, Term 2 of 47
A 28yearold female is seen by a genetic counselor during her second pregnancy because she
reports that her first pregnancy was diagnosed with thanatophoric dysplasia. No records are
available to confirm this. In order to substantiate the diagnosis, it is BEST to ask whether the fetus
had which of the following in addition to shortened limbs?
cloverleaf skull
fractures
ambiguous genitalia
polydactyly
Term 3 of 47
Discussion of artificial insemination with donor sperm is MOST appropriate for couples who have
a
daughter with cleft lip and palate.
daughter with limb girdle muscular dystrophy.
son with Becker muscular dystrophy.
son with KearnsSayre syndrome.
Term 4 of 47
A 40yearold man is referred to the genetics clinic by his internist. He has chronic fatigue, joint
pain in his hands and neck, and type 2 diabetes. Complete blood count, thyroid function studies,
and lipid profiles are within the normal
ranges, but serum ferritin levels are increased. Which of the following is the MOST likely
diagnosis?
acute intermittent porphyria
Fabry disease
hemochromatosis
Wilson disease
