40 Questions
Which of the following best defines ploidy?
The number of complete sets of chromosomes in a cell
What changes when the chromosome number changes in a cell?
The amount of DNA
What is the ploidy of a normal human zygote?
n=2
What is the ploidy of Penny's oocyte?
n=1
What is the ploidy of Leonard's sperm?
n=1
What is the ploidy of a daughter cell after meiosis I?
n=1
How many copies of Penny's mtDNA are present in the zygote?
2
What is the ploidy of Leonard's sister chromatids after DNA replication?
n=2
How many homologous chromosomes are present in each cell after meiosis I?
2
What is the ploidy of a normal human baby?
n=2
During meiosis II, how many cells are produced and how many copies of each autosome are present in each cell?
4 cells with 1 copy of each autosome
What is the ploidy of the cells after meiosis I?
2n, 4c
Where does recombination occur during meiosis?
Meiosis I
Do the sex chromosomes undergo crossing over during meiosis?
Yes, in females only
How many possible chromosome combinations are created during gametogenesis?
223
What is the term for a change in chromosome number that arises from errors in mitosis and meiosis and is clinically evident?
Aneuploidy
What is the term for a normal diploid chromosome complement of 46 chromosomes?
Euploidy
What is the term for three copies of a chromosome?
Trisomy
What is the term for one copy of a chromosome?
Monosomy
What is the ploidy of a girl with Patau Syndrome?
3n
Which technique is used to visualize the location of a specific nucleotide sequence and determine its presence on a chromosome?
Fluorescent In Situ Hybridization (FISH)
What is the main purpose of Multiplex FISH (M-FISH)?
To detect small chromosome rearrangements
What are the two categories of structural chromosome abnormalities?
Balanced and Unbalanced
Which type of structural chromosome abnormality involves the deletion of a part of a chromosome?
Deletion
What is the term for a large deletion on a chromosome that is visible under a light microscope?
Conventional cytogenetics
Which type of structural chromosome abnormality is characterized by no gain or loss of genetic content?
Balanced
What is the term for a change in chromosome structure caused by chromosome breakage and subsequent abnormal realignment?
Structural Chromosome Abnormalities
Are structural chromosome abnormalities heritable only if they occur in the germ line?
Yes
What is the term for a deletion on chromosome 5p, which is associated with Cri-du-chat Syndrome?
del(5p)
How often do large deletions (>5 Mb) occur on chromosomes?
Rarely
Which of the following is NOT a method used to study chromosomes?
DNA sequencing
Which type of chromatin is more condensed and less transcriptionally active?
Heterochromatin
What is the purpose of cytogenetics?
To identify chromosomal abnormalities
What is the resolution limitation of conventional cytogenetics?
Detects gross chromosomal changes (>5 Mb)
What is the purpose of the International System for Human Cytogenetic Nomenclature (ISCN)?
To name chromosomes based on their banding patterns
What does the 'p' in ISCN stand for?
Petit
What does the 'q' in ISCN stand for?
Queue
What is the purpose of a karyogram?
To identify chromosomal abnormalities
What is the term used to describe the regions of a chromosome counting out from the centromere?
Bands
What is the term used to describe the side-by-side arrangement of homologous chromosomes in a karyogram?
Karyotype
Test your knowledge on chromosomes, their structure, and abnormalities with this quiz. Learn about ploidy, numerical chromosome abnormalities, and inheritance patterns of structural chromosome abnormalities.
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