Chromosomes and Their Disorders Quiz

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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?

Mosaicism

Aneuploidy (correct)

Monosomy

Polyploidy

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?

45,X Signup and view all the answers

How many copies of a chromosome are present in Trisomy?

Three Signup and view all the answers

What is the term for different cell lines (mixoploidy) due to mosaicism?

Polyploidy Signup and view all the answers

What type of chromosomal inversion involves the centromere?

Pericentric inversion Signup and view all the answers

What is the significance of an inversion in carriers?

It produces abnormal gametes Signup and view all the answers

What type of translocation involves the fusion of acrocentric chromosomes near the centromere?

Robertsonian translocation Signup and view all the answers

What is the difference between a balanced and unbalanced Robertsonian translocation in terms of chromosomal number?

Balanced has 46 chromosomes, unbalanced has 45 chromosomes Signup and view all the answers

In which type of Robertsonian translocation does the derivative chromosome contain the long arms of the two original chromosomes?

(q10;q10) translocation Signup and view all the answers

What is the risk for a female carrier of a 13q21q or a 14q21q Robertsonian translocation to have a baby with Down syndrome?

10% to 15% Signup and view all the answers

In case of a carrier of a 21q21q Robertsonian translocation, what is the likely outcome for pregnancies?

All pregnancies will result in the birth of a child with Down syndrome Signup and view all the answers

How would you describe a chromosomal abnormality indicated as 46,XY,t(3;8)(p21;q23)?

Male with a reciprocal translocation between chromosome 3 and chromosome 8 Signup and view all the answers

How would you describe a chromosomal abnormality indicated as 46,XX,inv(9)(p11q12)?

Female with a reciprocal translocation involving chromosome 9 Signup and view all the answers

What is the cause of Down Syndrome (trisomy 21) due to Translocation?

Both non-disjunction and Translocation Signup and view all the answers

What is the recurrence risk for the next pregnancy due to non-disjunction in Down Syndrome?

1% Signup and view all the answers

What is the most common cause of triploidy?

Fertilization by two sperm cells Signup and view all the answers

What could result in the occurrence of tetraploidy?

The failure of the zygote to divide after replicating its chromosomes Signup and view all the answers

Which syndrome is characterized by the presence of an extra copy of chromosome 21?

Down Syndrome Signup and view all the answers

What is the typical consequence of monosomy for an entire chromosome?

Lethality Signup and view all the answers

What is the most common chromosomal mechanism leading to aneuploidy?

Mitotic nondisjunction Signup and view all the answers

When does mosaicism result from post-zygotic non-disjunction?

+1 chromosome with both sister chromatids going to one pole Signup and view all the answers

Which term describes a chromosome rearrangement involving loss of genetic material resulting in chromosomal imbalance?

Deletion Signup and view all the answers

What is the characteristic feature of Cri-du-chat syndrome?

Cat-like cry (hypoplasia of larynx) Signup and view all the answers

Which term describes a chromosome rearrangement where a segment removed from one chromosome is inserted into a different chromosome?

Insertion Signup and view all the answers

Which of the following best describes polyploidy?

The number of chromosomes present in the normal somatic cells Signup and view all the answers

What is the typical karyotype seen in Turner Syndrome?

45,X Signup and view all the answers

What does aneuploidy refer to?

Abnormalities in the number of chromosomes Signup and view all the answers

Which syndrome is characterized by the presence of an extra copy of chromosome 21?

Down Syndrome Signup and view all the answers

What type of chromosomal abnormality involves the fusion of acrocentric chromosomes near the centromere?

Translocation Signup and view all the answers

What is the primary difference between paracentric and pericentric inversions?

The involvement of the centromere Signup and view all the answers

What is the significance of an inversion in carriers?

It leads to abnormal offspring Signup and view all the answers

What is the risk for a female carrier of a 13q21q or a 14q21q Robertsonian translocation to have a baby with Down syndrome?

10-15% Signup and view all the answers

What is the basic set of chromosomes in a haploid cell?

23 Signup and view all the answers

In which type of Robertsonian translocation does the derivative chromosome contain the long arms of the two original chromosomes?

21q21q Signup and view all the answers

What is the characteristic feature of Cri-du-chat syndrome?

Missing genetic material on chromosome 5 Signup and view all the answers

When does mosaicism result from post-zygotic non-disjunction?

After fertilization Signup and view all the answers

What is the recurrence risk for the next pregnancy due to non-disjunction in Down Syndrome?

<ul> <li>maternal and paternal age risks</li> </ul> Signup and view all the answers

What is the most common chromosomal mechanism leading to aneuploidy?

Non-disjunction Signup and view all the answers

What type of translocation involves the fusion of acrocentric chromosomes near the centromere?

Balanced robertsonian translocation Signup and view all the answers

What is the condition characterized by the presence of one copy of a chromosome?

Monosomy Signup and view all the answers

What could result in the occurrence of tetraploidy?

Non-disjunction Signup and view all the answers

Which condition is characterized by the presence of four sets of chromosomes?

Tetraploidy (4n) Signup and view all the answers

What is the most common cause of triploidy?

Fertilization by two sperms (dispermy) Signup and view all the answers

Which syndrome is characterized by the presence of an extra copy of chromosome 13?

Patau Syndrome Signup and view all the answers

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?

Isochromosome Signup and view all the answers

What is the characteristic feature of Wolf-Hirschhorn syndrome?

Cat-like cry (hypoplasia of larynx) Signup and view all the answers

What is the most common chromosomal mechanism leading to aneuploidy?

Meiotic nondisjunction Signup and view all the answers

Which term describes a chromosomal abnormality indicated as 46,XX,del(5)(p15)?

Cri-du-chat syndrome Signup and view all the answers

What is the term for a chromosome rearrangement involving loss of genetic material resulting in chromosomal imbalance?

Deletion Signup and view all the answers

"Mosaicism" may result from which of the following?

"Post-zygotic non-disjunction" Signup and view all the answers

"Ring chromosome" is mitotically stable if which structure is within the ring?

"Centromere" Signup and view all the answers

"Balanced Unbalanced" chromosomal rearrangements are likely to have what effect on phenotype?

They pose a threat to the offspring. Signup and view all the answers

Which term describes a chromosome rearrangement where a segment removed from one chromosome is inserted into a different chromosome?

Insertion Signup and view all the answers

Chromosomes and Their Disorders Quiz

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Questions and Answers

What is the basic set of chromosomes in a haploid cell?

What is the term for the loss or gain of one or more chromosome/s?

What is the condition characterized by the presence of one copy of a chromosome?

In Turner Syndrome, what is the typical karyotype?

How many copies of a chromosome are present in Trisomy?

What is the term for different cell lines (mixoploidy) due to mosaicism?

What type of chromosomal inversion involves the centromere?

What is the significance of an inversion in carriers?

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?

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?

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,XX,inv(9)(p11q12)?

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 most common cause of triploidy?

What could result in the occurrence of tetraploidy?

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 most common chromosomal mechanism leading to aneuploidy?

When does mosaicism result from post-zygotic non-disjunction?

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?

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?

What is the typical karyotype seen in Turner Syndrome?

What does aneuploidy refer to?

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 is the primary difference between paracentric and pericentric inversions?

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 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?

What is the characteristic feature of Cri-du-chat syndrome?

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 most common chromosomal mechanism leading to aneuploidy?

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 could result in the occurrence of tetraploidy?

Which condition is characterized by the presence of four sets of chromosomes?

What is the most common cause of triploidy?

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 characteristic feature of Wolf-Hirschhorn syndrome?

What is the most common chromosomal mechanism leading to aneuploidy?

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?

"Mosaicism" may result from which of the following?

"Ring chromosome" is mitotically stable if which structure is within the ring?

"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?

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