Quiz 1: Introduction to congenital disorders

Please choose the one, most correct answer to each question or statement.

  1. What is a congenital disorder?
    • An abnormality of structure present at birth
    • An abnormality of function present at birth
    • Either an abnormality of structure or function present at birth
    • An abnormality of structure or function which is not present at birth
  2. What is birth prevalence?
    • The number of affected infants per 1000 in a population
    • The number of affected infants per 1000 total births
    • The number of affected infants born in a month
    • The number of affected infants born in a year
  3. How common are congenital disorders in developing countries?
    • 10/1000 total births.
    • 30/1000 still births.
    • 80/1000 live births.
    • 120/1000 live births.
  4. How many chromosomes are found in the cells of the human body?
    • 22
    • 23
    • 44
    • 46
  5. Females have:
    • One X chromosome.
    • One Y chromosome.
    • Two X chromosomes.
    • No X chromosomes.
  6. Ova and sperms are also called sex cells or:
    • Zygotes.
    • Embryos.
    • Gametes.
    • Genes.
  7. What is a gene?
    • A small package of DNA.
    • A group of chromosomes.
    • A fertilised egg.
    • A pair of chromosomes.
  8. What is a mutation?
    • A change in the structure of a gene.
    • An increased number of genes.
    • A decreased number of genes.
    • It has nothing to do with genes.
  9. What are alleles?
    • A pair of similar genes.
    • Single chromosomes.
    • A substance that damages a fetus.
    • A defect in a single gene.
  10. What is the chance of inheriting a dominant gene present in one parent?
    • There is a 25% chance of inheriting the gene.
    • There is a 50% chance of inheriting the gene.
    • Only females pass on the gene.
    • Only males pass on the gene.
  11. What is a recessive gene?
    • A ‘stronger’ gene.
    • A ‘weaker’ gene.
    • A female gene.
    • Always an abnormal gene.
  12. A person who has a dominant and a recessive gene for a particular physical feature or function is called:
    • A female.
    • Homozygous.
    • Heterozygous.
    • A twin.
  13. If both parents are carriers of a recessive gene, the chance of their infant inheriting both recessive genes is:
    • 1:1 (i.e. 100%).
    • 1:2 (i.e. 50%).
    • 1:4 (i.e. 25%).
    • 1:10 (i.e. 10%).
  14. Name the type of inheritance if a recessive gene is carried by females and only passed on to their male infants:
    • Dominant inheritance.
    • Recessive inheritance.
    • Y-linked inheritance.
    • X-linked inheritance.
  15. What are multifactorial congenital disorders?
    • A congenital disorder caused but 2 or more genetic abnormalities.
    • A congenital disorder cause by 2 or more teratogens.
    • A congenital disorders caused by the interaction of genetic and environmental factors.
    • A congenital disorder common in twins.
  16. What is a teratogen?
    • An abnormal chromosome.
    • An abnormal gene.
    • Something in the environment that damages the embryo or fetus.
    • Something in the environment that damages a gene.
  17. What is a malformation?
    • A congenital disorder which is caused by a problem in the first trimester
    • A congenital disorder caused by amniotic bands
    • A congenital disorder caused by hypoxia in labour
    • A congenital disorder caused by a problem in the last trimester
  18. What may cause a deformity?
    • Drinking excess alcohol during pregnancy
    • Oligohydramnios (too little amniotic fluid)
    • Wearing tight fitting clothes during pregnancy
    • Reducing calorie intake in late pregnancy to slow fetal growth
  19. What is the name of a pattern of multiple structural abnormalities which can easily be recognised?
    • An association
    • A disruption
    • A syndrome
    • A deformity
  20. What is a sequence?
    • One physical abnormality resulting in a number of other abnormalities
    • Two or more siblings with the same congenital disorder
    • A number of closely related single gene defects resulting in a congenital disorder
    • Two or more chromosomes causing a functional congenital disorder
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