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Practice Exam Questions

Quiz by Adrian Cortez

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80 questions
Show answers
  • Q1
    The following statements are true regarding mitochondrial inheritance, except:
    None of the above
    Sperms do not have mitochondria.
    The sperm do not usually contribute mitochondria to the developing embryo.
    The human genome is comprised of both nuclear and mitochondrial DNA.
    0s
  • Q2
    This is the observed structural, physiologic and biochemical characteristics of an individual.
    Allele
    Phenotype
    Genetic variation
    Genotype
    0s
  • Q3
    A pedigree is a graphic representation of a family’s structure and medical history. An affected member coming to medical attention independent of other family members and is designated in the pedigree by an arrow is termed as the:
    Informant
    Proband
    Source
    Consultand
    0s
  • Q4
    This type of Mendelian inheritance is characterized by vertical transmission (parent to child) which appears in multiple generations. An affected individual has 50% chance of passing the deleterious gene for each pregnancy.
    X-linked inheritance
    Autosomal dominant inheritance
    Y-linked inheritance
    Autosomal recessive inheritance
    0s
  • Q5
    In the pedigree below, I.2 has 2 sons with Glucose-Phosphate-Dehydrogenase Deficiency which is an X-linked disorder. What is the chance that the next child, II.4, will be affected?
    Question Image
    25% for a son and zero for a daughter
    100% for a son and 50% for a daughter
    50% for a son, zero for a daughter
    50% for both son and daughter
    0s
  • Q6
    Which of the statements is true regarding X-linked inheritance?
    Females are more commonly and more severely affected than males.
    All female carriers are unaffected
    X chromosome inactivation involves random inactivation of most genes on one X chromosome in female cells which may result to phenotypic expression of an X-linked mutation if it resides on the active chromosome.
    All of the above
    0s
  • Q7
    This condition is present in an individual who has 2 or more different cell lines derived from a single zygote and is usually the result of mitotic nondisjunction.
    Uniparentaldisomy
    Translocation
    Genomic imprinting
    Mosaicism
    0s
  • Q8
    This is the most common clinically significant type of human chromosome abnormality.
    Isochromosomes
    Translocation
    Aneuploidy
    Duplication
    0s
  • Q9
    A newborn male was referred for genetic evaluation. He is small for gestational age, with microcephaly, prominent occiput and ventricular septal defect index finger overlapping the 3rd digit and the 5th digit overlapping the 4th, short sternum, and rocker-bottom feet, The newborn most probably this karyotype:
    45 XO
    47, XY +21
    47, XY +13
    47, XY +18
    0s
  • Q10
    A baby referred to you from the NICU presented with the following features: microphthalmia, microcephaly, scalp defects, midline cleft lip and palate,  polydactyly and a heart murmur. The newborn probably has:
    Down Syndrome
    Patau Syndrome
    Marfan Syndrome
    Edwards Syndrome
    0s
  • Q11
    An 18 year old female is referred for short stature. History and physical examination reveal primary amenorrhea, lack of secondary sexual characteristics, systolic murmur, shield chest and widely-spaced nipples. The patient most probably has:
    Turner Syndrome
    PraderWilli Syndrome
    Williams Syndrome
    Di George Syndrome
    0s
  • Q12
    A 20 year old male was referred from the outpatient clinic. He presented with developmental delay, long limbs, small genitalia, gynecomastia and reduced facial and body hair. The following result is expected when you do a chromosomal analysis.
    47, XYY
    47, XYY
    47, XXX
    47, XXY
    0s
  • Q13
    This genetic disorder accounts for 3% of males with intellectual disability and is characterized by autistic behavior and postpubertalmacroorchidism.
    Rett Syndrome
    Cornelia De Lange Syndrome
    Klinefelter Syndrome
    Fragile X Syndrome
    0s
  • Q14
    A 2 month old baby was brought to your clinic for speech delay. On physical examination, you noted microcephaly,  hypertelorism, epicanthus and flat nasal bridge. The mother describes the baby’s cry as shrill, high-pitched and sounded like that of a cat. The patient most probably has:
    Cri Du Chat Syndrome
    Edwards Syndrome
    PraderWilli Syndrome
    Cornelia De Lange Syndrome
    Beckwith Wiedemann Syndromes
  • Q15
    The following laboratory findings that should prompt a metabolic work-up include the following:
    All of the above
    Lactic acidosis and Hyperammonemia
    Ketosis
    Hypoglycemia
    Beckwith Wiedemann Syndromes

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