16 Questions
What is the result of mitotic collapse in the zygote?
Tetraploidy
What is the term for two copies of the genome from the same parent, resulting in homozygosis for all genes?
Dihaploidy
What is the term for alterations of a specific chromosome?
Aneuploidy
What is the term for the presence of an extra chromosome 21?
Down syndrome
What is the result of a breakage or deletion in a chromosome?
Structural chromosomal abnormality
What is the term for a mixture of cells with different numbers of chromosomes in the same individual?
Mosaicism
What is the term for the presence of an extra X chromosome in females?
XXX Syndrome
What is the term for the presence of a single X chromosome in females?
Turner Syndrome
What is the consequence of improper or prohibited use of information during exams?
Grade in that call as 0.0 and oral examination in future calls
What is the purpose of the documentation provided by the teacher through the student portal?
To prepare for the subject
What is the result of triploidies in embryonic development?
Spontaneous abortions throughout embryonic development
What is the definition of polyploidies?
Alteration of complete chromosomal sets due to failure in the division of the egg, sperm or dyspermia
What is the purpose of making karyotypes?
To identify chromosomal abnormalities
What is the consequence of signing the attendance sheet by a classmate who is not in class?
Loss of continuous evaluation without prejudice to the sanctioning actions
What is the right reserved by the teacher(s) regarding the material provided through the student portal?
To make use of the measures included in the current legislation on Intellectual Property
What is the definition of chromosomal abnormalities?
Alterations in the number or shape of chromosomes
Study Notes
Rules of Behavior
- Failure to maintain academic integrity, including plagiarism, unauthorized use of information, and falsifying attendance, will result in loss of continuous evaluation and potential sanctions.
- Improper use of electronic devices or information during exams will result in a grade of 0.0 for that call.
- Students may be required to take an oral exam in future calls if they violate rules.
- Electronic devices are not allowed during classes, and use of teacher-provided materials is restricted to preparation for the subject.
Chromosomal Abnormalities
- Chromosomal abnormalities are alterations in the number or shape of chromosomes, diagnosed through karyotype preparation.
- Numerical chromosomal abnormalities:
- Polyploidies: alteration of complete chromosomal sets due to failure in egg or sperm division or dyspermia.
- Triploidies: three complete chromosomal sets, often resulting in spontaneous abortions.
- Tetraploidy: four complete chromosome sets, resulting from mitotic collapse in the zygote, and never developing into an individual.
- Dihaploidy: two copies of the genome from the same parent, resulting in homozygosis for all genes and an imprinting pattern.
- Aneuploidies: alteration of a specific chromosome, often related to maternal age and potentially presenting as mosaic.
- Types of trisomies:
- Down syndrome: trisomy 21 (autosomal).
- Patau syndrome: trisomy 13 (autosomal).
- Edwards syndrome: trisomy 18 (autosomal).
- Klinefelter Syndrome: XXY (sexual).
- Super Man Syndrome: XXY Males (sexual).
- Women XXX (sexual).
- Monosomies: Turner Syndrome, X0 (sexual) women.
- Structural chromosomal abnormalities:
- Breakages, inversions, deletions, or duplications of chromosomes can affect the phenotype of the individual or the viability of their gametes.
This quiz covers the rules of behavior related to academic integrity, including plagiarism, citation, and exam conduct.
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