30 Questions
Which staining method is used to enhance the staining of AT-rich regions on metaphase chromosomes?
G (Giemsa) staining
What is the banding pattern related to GC-rich regions called?
R-banding
How is the position of a band on a chromosome determined in a karyotype?
By the distance from the centromere
What is the abbreviation used to describe a structurally rearranged chromosome with intact centromere?
der
Which type of chromosomes are used for metaphase spread?
Metaphase chromosomes
Which type of chromosomes are used for interphase analysis?
Interphase chromosomes
What is the disadvantage of using chromosomal microarrays for analysis?
Limited coverage of the genome
What is the resolution of single molecule optical mapping for detecting structural aberrations?
Greater than 500bp
Which of the following is an example of a female sex chromosome aneuploidy?
Turner syndrome (XO)
Which of the following is true about trisomy 21 (Down syndrome)?
It is observed in 95% of cases
Which of the following is true about chromosomal aberrations?
All of the above
Which of the following is an example of a structural aberration?
Deletion
Which of the following is NOT a template used by DNA repair mechanisms for base pairing/polymerization or end joining after trimming?
None of the above
What is the main goal of studying CRISPer-based gene repair?
To improve the efficiency of CRISPer for gene repair
Which of the following is true about balanced structural aberrations?
They can cause loops during meiosis
What are the possible types of mutations that can result from errors in DNA repair processes?
All of the above
Which of the following accurately describes the process of meiosis?
A form of DNA damage followed by repair resulting in four haploid cells
What is the purpose of homologous recombination in meiosis?
To create genetic diversity by shuffling genes between maternal and paternal chromosomes
Which of the following accurately describes the role of homologous sisters in meiosis?
Homologous sisters remain linked together after homologous recombination
What is the difference between crossover and non-crossover during homologous recombination in meiosis?
Crossover results in swapping segments between break points, while non-crossover does not
Which type of repair removes the modified base, cleaves out the backbone, fills in, and ligates?
Base excision repair (BER)
Which repair pathway occurs at base mismatches and short insertions or deletions?
Mismatch/short indel repair (MMR)
Which repair process joins blunted ends and can join non-homologs if multiple chromosomes are broken to give structural aberrations?
Classical non-homologous end joining (C-NHEJ)
Which repair pathway uses a homolog (in meiosis) or sister chromatid (interphase S/G2) as a template for repair of damaged strands?
Homologous recombination (HR)
Which of the following is a possible cause of unbalanced structural aberrations?
Duplications and deletions
What is the estimated frequency of all different types of structural aberrations?
1/400
Which syndrome is characterized by a translocation of part of the Y chromosome onto the X chromosome?
XX male syndrome
What is the phenotype of individuals with Cri du chat syndrome?
All of the above
Which type of aberration involves incorrect pairing of homologous regions during gametogenesis?
Meiotic errors
What is the impact of most structural aberrations on disease development?
Most do not cause disease
Test your knowledge on types of female sex chromosome number aneuploidies such as Turner syndrome and triple X syndrome. Learn about their effects on phenotype and fertility.
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