Clinical genetics Flashcards
Which of the following is/are characteristic/s of autosomal dominant inheritance?
A. Male to daughter transmission occurs. B. Male to male transmission occurs. C. Males can have unaffected daughters. D. A and C are correct. E. All are correct.
E
Which is/are TRUE of an X-linked recessive inheritance?
A. The gene cannot be transmitted directly from father to son.
B. Heterozygous females can manifest the disorder.
C. Carrier females have a 50% chance of having unaffected carrier daughters.
D. All are correct.
E. A and C are correct.
E
Which of the following manifest as non-Mendelian inheritance pattern?
A. Triplet repeat expansion disorders
B. Mitochondrial disorders
C. Genomic imprinting
D. All of the above
D
Which of the following characterize triplet repeat expansion disorders?
A. Segments of DNA that contains a repeat of three nucleotides.
B. All affected members of a family share the same number of triplet repeat numbers.
C. An expansion of the triplet repeats can happen from one generation to the next.
D. A and C are correct.
E. All are correct.
D
Which of the following characterizes mitochondrial disorders?
A. The father does not transmit the condition to his children.
B. Females are more affected often than males in multiple generations.
C. There is little variability in clinical manifestations.
D. All of the above
A
Which of the following characterizes multifactorial inheritance pattern?
A. Males are affected more severely.
B. There is no clear pattern.
C. There is no generation skipping.
D. All of the above
B
Which of the following BEST describes an autosomal dominant condition?
A. Variability in the severity of clinical disease expression is observed.
B. Homozygotes are less severely affected than heterozygotes.
C. The condition is only seen in one generation.
D. Only the father can only transmit the genes to his daughter.
A
Which of the following describes imprinting?
A. A parent of origin effect in which modification of a gene allows it to be expressed differently
B. Inactivation of the imprinted copy of the gene which prevents gene expression
C. Conditions such a Prader Willi Syndrome and Angelman Syndrome
D. All of the above
D
Which of the following is NOT included in the newborn screening in the Philippines?
A. Glucose-6-phosphate deficiency
B. Galactosemia
C. Congenital adrenal hyperplasia
D. Neural tube defects
D
Which characterizes neural tube defects?
A. The beneficial effects of folic acid supplementation rule out the involvement of genetic machinery.
B. Folic acid supplementation is most effectively taken before the neural tube forms.
C. Neural tube defects are likely to be mediated by a single gene defect.
D. The risk of neural tube defects is not increased in patients with previous episodes.
B
Which of the following LEAST demonstrates a potential effect of the environment to the phenotype?
A. Increase in the rate of a fetal disease on intake of alcohol or tobacco
B. Avoiding teratogens that harms the fetus
C. Increased chance of neural tube defect due to incidents in family member
D. Preventing undernutrition during pregnancy
C
Which of the following a CORRECT match with regards to sex testing?
A. Maternal blood: fetal DNA
B. Chorionic villi: fetal RNA
C. Ultrasound: fetal protein
D. Amnionic fluid: fetal phenotype
A
Which of the following is INCORRECT about complex/multifactorial traits?
A. Phenotypes of these traits are very distinct.
B. Environment likely plays a role.
C. Several gene and their interactions are involved.
D. Obesity, intelligence, and neural tube defects are examples of complex traits.
A
The family pedigree is a useful diagnostic tool due to the following reasons:
A. Establishes pattern of inheritance B. Identifies at-risk family members C. Help families decide on their reproductive options D.NOTA E. AOTA
E
Consanguinity is associated with what pattern of inheritance?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
B
