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Questions and Answers
What is the basic set of chromosomes in a haploid cell?
What is the basic set of chromosomes in a haploid cell?
- 22
- 23 (correct)
- 44
- 46
What is the term for the loss or gain of one or more chromosome/s?
What is the term for the loss or gain of one or more chromosome/s?
- Mosaicism
- Aneuploidy (correct)
- Monosomy
- Polyploidy
What is the condition characterized by the presence of one copy of a chromosome?
What is the condition characterized by the presence of one copy of a chromosome?
- Polyploidy
- Trisomy
- Mosaicism
- Monosomy (correct)
In Turner Syndrome, what is the typical karyotype?
In Turner Syndrome, what is the typical karyotype?
How many copies of a chromosome are present in Trisomy?
How many copies of a chromosome are present in Trisomy?
What is the term for different cell lines (mixoploidy) due to mosaicism?
What is the term for different cell lines (mixoploidy) due to mosaicism?
What type of chromosomal inversion involves the centromere?
What type of chromosomal inversion involves the centromere?
What is the significance of an inversion in carriers?
What is the significance of an inversion in carriers?
What type of translocation involves the fusion of acrocentric chromosomes near the centromere?
What type of translocation involves the fusion of acrocentric chromosomes near the centromere?
What is the difference between a balanced and unbalanced Robertsonian translocation in terms of chromosomal number?
What is the difference between a balanced and unbalanced Robertsonian translocation in terms of chromosomal number?
In which type of Robertsonian translocation does the derivative chromosome contain the long arms of the two original chromosomes?
In which type of Robertsonian translocation does the derivative chromosome contain the long arms of the two original chromosomes?
What is the risk for a female carrier of a 13q21q or a 14q21q Robertsonian translocation to have a baby with Down syndrome?
What is the risk for a female carrier of a 13q21q or a 14q21q Robertsonian translocation to have a baby with Down syndrome?
In case of a carrier of a 21q21q Robertsonian translocation, what is the likely outcome for pregnancies?
In case of a carrier of a 21q21q Robertsonian translocation, what is the likely outcome for pregnancies?
How would you describe a chromosomal abnormality indicated as 46,XY,t(3;8)(p21;q23)?
How would you describe a chromosomal abnormality indicated as 46,XY,t(3;8)(p21;q23)?
How would you describe a chromosomal abnormality indicated as 46,XX,inv(9)(p11q12)?
How would you describe a chromosomal abnormality indicated as 46,XX,inv(9)(p11q12)?
What is the cause of Down Syndrome (trisomy 21) due to Translocation?
What is the cause of Down Syndrome (trisomy 21) due to Translocation?
What is the recurrence risk for the next pregnancy due to non-disjunction in Down Syndrome?
What is the recurrence risk for the next pregnancy due to non-disjunction in Down Syndrome?
What is the most common cause of triploidy?
What is the most common cause of triploidy?
What could result in the occurrence of tetraploidy?
What could result in the occurrence of tetraploidy?
Which syndrome is characterized by the presence of an extra copy of chromosome 21?
Which syndrome is characterized by the presence of an extra copy of chromosome 21?
What is the typical consequence of monosomy for an entire chromosome?
What is the typical consequence of monosomy for an entire chromosome?
What is the most common chromosomal mechanism leading to aneuploidy?
What is the most common chromosomal mechanism leading to aneuploidy?
When does mosaicism result from post-zygotic non-disjunction?
When does mosaicism result from post-zygotic non-disjunction?
Which term describes a chromosome rearrangement involving loss of genetic material resulting in chromosomal imbalance?
Which term describes a chromosome rearrangement involving loss of genetic material resulting in chromosomal imbalance?
What is the characteristic feature of Cri-du-chat syndrome?
What is the characteristic feature of Cri-du-chat syndrome?
Which term describes a chromosome rearrangement where a segment removed from one chromosome is inserted into a different chromosome?
Which term describes a chromosome rearrangement where a segment removed from one chromosome is inserted into a different chromosome?
Which of the following best describes polyploidy?
Which of the following best describes polyploidy?
What is the typical karyotype seen in Turner Syndrome?
What is the typical karyotype seen in Turner Syndrome?
What does aneuploidy refer to?
What does aneuploidy refer to?
Which syndrome is characterized by the presence of an extra copy of chromosome 21?
Which syndrome is characterized by the presence of an extra copy of chromosome 21?
What type of chromosomal abnormality involves the fusion of acrocentric chromosomes near the centromere?
What type of chromosomal abnormality involves the fusion of acrocentric chromosomes near the centromere?
What is the primary difference between paracentric and pericentric inversions?
What is the primary difference between paracentric and pericentric inversions?
What is the significance of an inversion in carriers?
What is the significance of an inversion in carriers?
What is the risk for a female carrier of a 13q21q or a 14q21q Robertsonian translocation to have a baby with Down syndrome?
What is the risk for a female carrier of a 13q21q or a 14q21q Robertsonian translocation to have a baby with Down syndrome?
What is the basic set of chromosomes in a haploid cell?
What is the basic set of chromosomes in a haploid cell?
In which type of Robertsonian translocation does the derivative chromosome contain the long arms of the two original chromosomes?
In which type of Robertsonian translocation does the derivative chromosome contain the long arms of the two original chromosomes?
What is the characteristic feature of Cri-du-chat syndrome?
What is the characteristic feature of Cri-du-chat syndrome?
When does mosaicism result from post-zygotic non-disjunction?
When does mosaicism result from post-zygotic non-disjunction?
What is the recurrence risk for the next pregnancy due to non-disjunction in Down Syndrome?
What is the recurrence risk for the next pregnancy due to non-disjunction in Down Syndrome?
What is the most common chromosomal mechanism leading to aneuploidy?
What is the most common chromosomal mechanism leading to aneuploidy?
What type of translocation involves the fusion of acrocentric chromosomes near the centromere?
What type of translocation involves the fusion of acrocentric chromosomes near the centromere?
What is the condition characterized by the presence of one copy of a chromosome?
What is the condition characterized by the presence of one copy of a chromosome?
What could result in the occurrence of tetraploidy?
What could result in the occurrence of tetraploidy?
Which condition is characterized by the presence of four sets of chromosomes?
Which condition is characterized by the presence of four sets of chromosomes?
What is the most common cause of triploidy?
What is the most common cause of triploidy?
Which syndrome is characterized by the presence of an extra copy of chromosome 13?
Which syndrome is characterized by the presence of an extra copy of chromosome 13?
What is the term for a chromosomal rearrangement where one arm of a chromosome is missing and the other is duplicated in a mirror image fashion?
What is the term for a chromosomal rearrangement where one arm of a chromosome is missing and the other is duplicated in a mirror image fashion?
What is the characteristic feature of Wolf-Hirschhorn syndrome?
What is the characteristic feature of Wolf-Hirschhorn syndrome?
What is the most common chromosomal mechanism leading to aneuploidy?
What is the most common chromosomal mechanism leading to aneuploidy?
Which term describes a chromosomal abnormality indicated as 46,XX,del(5)(p15)?
Which term describes a chromosomal abnormality indicated as 46,XX,del(5)(p15)?
What is the term for a chromosome rearrangement involving loss of genetic material resulting in chromosomal imbalance?
What is the term for a chromosome rearrangement involving loss of genetic material resulting in chromosomal imbalance?
"Mosaicism" may result from which of the following?
"Mosaicism" may result from which of the following?
"Ring chromosome" is mitotically stable if which structure is within the ring?
"Ring chromosome" is mitotically stable if which structure is within the ring?
"Balanced Unbalanced" chromosomal rearrangements are likely to have what effect on phenotype?
"Balanced Unbalanced" chromosomal rearrangements are likely to have what effect on phenotype?
Which term describes a chromosome rearrangement where a segment removed from one chromosome is inserted into a different chromosome?
Which term describes a chromosome rearrangement where a segment removed from one chromosome is inserted into a different chromosome?
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