BMS2103 Clinical Gen Prep

A highly detailed and colorful illustration showing various chromosomes and genetic structures, with an overlay of DNA strands, showcasing the complexity and beauty of genetics.

Understanding Clinical Genetics

Test your knowledge of clinical genetics with our engaging quiz designed for students and enthusiasts alike. Covering various topics such as chromosomal abnormalities, inheritance patterns, and multifactorial diseases, this quiz will help you assess your understanding of key concepts in the field.

Features:

  • 10 multiple choice questions
  • Diverse topics related to clinical genetics
  • Immediate feedback on your answers
10 Questions2 MinutesCreated by StudyingGene32
Klinefelter syndrome is a chromosomal abnormality denoted by
45, XO
46, XY
47, XXY
47, XYY
Ploidy typically involves an individual having:
Specific additional or missing chromosomes (e.g. trisomy 21)
The wrong number of complete chromosome sets in all cells (e.g. triploidy)
A small inversion within chromosome 21
Robertsonian translocation
Refers only to abnormal sex chromosomes
Multifactorial diseases typically:
Are caused by a single mutation
Involve chromosome rearrangements
Lead to spontaneous miscarriage
Present in early childhood
Significantly affect adult populations
When studying an inherited phenomenon, a geneticist discovers a phenotypic ratio of 9:3:3:1 among offspring of a given mating. A possible explanation for this is a two locus-two alleles at each locus system that exhibits:
Epistasis
Linkage
Pleiotropy
Independent assortment
The phenomenon in which genes on the same chromosome are separated from each other during meiosis and new combinations of genes are formed is known as:
Linkage
Synapsis
Recombination
Nondisjunction
Disjunction
Leber's hereditary optic atrophy is caused by a mutation in:
Chromosome 12.
Chromosome 18.
Chromosome 21.
Mitochondrial DNA.
Starting with a cross between AA and aa, the proportion of heterozygotes in the F2 progeny will be ___.
1/8
1/4
1/3
All heterozygotes
1/2
In humans, many more males are affected by Duchene muscular dystrophy than females and these affected males typically come from unaffected parents. The likely inheritance pattern is:
Autosomal dominant
Autosomal recessive
Mitochondrial
X-linked
Chiasmata occur between which of the following?
Sister chromatids
Any two chromatids
Non-sister chromatids
Maternal chromatids
If an affected male has affected daughters and sons in about the same number as unaffected daughters and sons, the trait is likely to be an:
X-linked dominant trait
Autosomal recessive trait
Autosomal dominant trait
X-linked recessive trait
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