CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
Question 1. Which syndrome is characterized by the triad of cleft palate,
developmental delay, and characteristic facial features, often caused by
22q11.2 deletion?
A) DiGeorge syndrome
B) Williams syndrome
C) Angelman syndrome
D) Prader-Willi syndrome
Answer: A
Explanation: DiGeorge syndrome results from 22q11.2 deletion and
presents with cleft palate, congenital heart defects, and developmental
delays.
,CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
Question 2. A fetus with increased nuchal translucency and cystic
hygroma on ultrasound is most likely to have which genetic
abnormality?
A) Turner syndrome
B) Down syndrome
C) Noonan syndrome
D) Marfan syndrome
Answer: B
Explanation: Increased nuchal translucency and cystic hygroma are
common prenatal findings associated with trisomy 21 (Down
syndrome).
Question 3. Which gene mutation is most commonly associated with
fragile X syndrome?
,CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
A) FMR1
B) MECP2
C) TSC1
D) PTEN
Answer: A
Explanation: Fragile X syndrome is caused by CGG trinucleotide repeat
expansion in the FMR1 gene.
Question 4. In the context of dysmorphology, what best describes a
sequence?
A) A pattern of anomalies caused by a single initial anomaly
B) A collection of unrelated anomalies
C) An inherited syndrome with multiple features
, CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
D) A congenital malformation due to teratogen exposure
Answer: A
Explanation: A sequence involves a cascade of anomalies originating
from a single initial defect, such as Pierre Robin sequence.
Question 5. Which prenatal screening test is most specific for detecting
neural tube defects?
A) Maternal serum alpha-fetoprotein
B) Chorionic villus sampling
C) Non-invasive prenatal testing
D) Amniocentesis for karyotyping
Answer: A
Genomics CLIN Exam
Question 1. Which syndrome is characterized by the triad of cleft palate,
developmental delay, and characteristic facial features, often caused by
22q11.2 deletion?
A) DiGeorge syndrome
B) Williams syndrome
C) Angelman syndrome
D) Prader-Willi syndrome
Answer: A
Explanation: DiGeorge syndrome results from 22q11.2 deletion and
presents with cleft palate, congenital heart defects, and developmental
delays.
,CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
Question 2. A fetus with increased nuchal translucency and cystic
hygroma on ultrasound is most likely to have which genetic
abnormality?
A) Turner syndrome
B) Down syndrome
C) Noonan syndrome
D) Marfan syndrome
Answer: B
Explanation: Increased nuchal translucency and cystic hygroma are
common prenatal findings associated with trisomy 21 (Down
syndrome).
Question 3. Which gene mutation is most commonly associated with
fragile X syndrome?
,CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
A) FMR1
B) MECP2
C) TSC1
D) PTEN
Answer: A
Explanation: Fragile X syndrome is caused by CGG trinucleotide repeat
expansion in the FMR1 gene.
Question 4. In the context of dysmorphology, what best describes a
sequence?
A) A pattern of anomalies caused by a single initial anomaly
B) A collection of unrelated anomalies
C) An inherited syndrome with multiple features
, CLIN ABMGG Clinical Genetics and
Genomics CLIN Exam
D) A congenital malformation due to teratogen exposure
Answer: A
Explanation: A sequence involves a cascade of anomalies originating
from a single initial defect, such as Pierre Robin sequence.
Question 5. Which prenatal screening test is most specific for detecting
neural tube defects?
A) Maternal serum alpha-fetoprotein
B) Chorionic villus sampling
C) Non-invasive prenatal testing
D) Amniocentesis for karyotyping
Answer: A
