Chromosomal Alterations Questions and Answers

Q: Translocation in philadelphia chromosome :

The Philadelphia translocation leads to the chronic myelogenous leukemia.The Philadelphia chromosome is a shortened chromosome 22 produced by a reciprocal translocation between chromosomes 9 and 22, t(9;22). It fuses the ABL gene from chromosome 9 to the BCR gene on chromosome 22, making a BCR-ABL tyrosine kinase that is always active and drives the uncontrolled growth of myeloid cells. It is present in about 95 percent of CML cases, and imatinib was designed to block it.The exchange is between chromosomes 9 and 22, so both '19 to 21' and '9 to 21' are wrong. Black urine is a sign of alkaptonuria, an inborn error of tyrosine metabolism unrelated to this translocation.

Q: Cridu chat syndrome is caused due to which of the following ?

Cri du chat syndrome is caused by the deletion of the short arm of chromosome 5.The loss of part of 5p (5p-) produces the characteristic high-pitched, cat-like cry of affected infants, which gives the syndrome its French name, together with microcephaly and intellectual disability.The condition is a deletion, so translocation of the long arm, duplication, and inversion of the short arm are the wrong kinds of chromosomal change. An inversion or balanced translocation keeps all the genetic material and usually has no such effect on the carrier.

Q: Cri-du-chat syndrome is caused due to which one of the following phenomenon ?

Cri-du-chat syndrome is caused by deletion of the short arm of chromosome 5.The syndrome results from loss of part of 5p (the critical region is around 5p15). Affected infants have a characteristic high-pitched, cat-like cry, microcephaly and intellectual disability. Most cases arise from a new deletion.Translocation, inversion and duplication are other structural changes. A balanced translocation in a parent can occasionally lead to an unbalanced 5p loss in a child, but the cause of the syndrome itself is the deletion.

Q: G-banding techniques are used for :

G-banding is used for karyotyping in cytogenetics.In G-banding, metaphase chromosomes are briefly treated with trypsin and stained with Giemsa, giving each chromosome a characteristic pattern of dark and light bands. The pattern lets each chromosome be identified and structural changes such as deletions and translocations be detected.Isoelectric focusing separates proteins by charge, pulsed-field electrophoresis separates large DNA molecules, and microarrays measure gene expression or variation by hybridisation. None of them uses Giemsa banding of chromosomes.

11.

Translocation in philadelphia chromosome :

A.19 to 21 chromosome region exchange
B.9 to 21 chromosome region exchange
C.leads to the production of black urine
D.leads to the chronic myelogenous leukemia

Exam Year(s)

MH SET - 2023, SET Exam - 2023,

Answer: D

The Philadelphia translocation leads to the chronic myelogenous leukemia.

The Philadelphia chromosome is a shortened chromosome 22 produced by a reciprocal translocation between chromosomes 9 and 22, t(9;22). It fuses the ABL gene from chromosome 9 to the BCR gene on chromosome 22, making a BCR-ABL tyrosine kinase that is always active and drives the uncontrolled growth of myeloid cells. It is present in about 95 percent of CML cases, and imatinib was designed to block it.

The exchange is between chromosomes 9 and 22, so both '19 to 21' and '9 to 21' are wrong. Black urine is a sign of alkaptonuria, an inborn error of tyrosine metabolism unrelated to this translocation.

Discuss in Forum

12.

Cridu chat syndrome is caused due to which of the following ?

A.Deletion of short arm of chromosome no. 5
B.Translocation of long arm of chromosome no. 5
C.Duplication of short arm of chromosome no. 5
D.Inversion of short arm of chromosome no. 5

Exam Year(s)

MH SET - 2024, SET Exam - 2024,

Answer: A

Cri du chat syndrome is caused by the deletion of the short arm of chromosome 5.

The loss of part of 5p (5p-) produces the characteristic high-pitched, cat-like cry of affected infants, which gives the syndrome its French name, together with microcephaly and intellectual disability.

The condition is a deletion, so translocation of the long arm, duplication, and inversion of the short arm are the wrong kinds of chromosomal change. An inversion or balanced translocation keeps all the genetic material and usually has no such effect on the carrier.

Discuss in Forum

13.

Cri-du-chat syndrome is caused due to which one of the following phenomenon ?

A.Deletion of short arm of chromosome no. 5
B.Translocation of short arm of chromosome no. 5
C.Inversion of long arm of chromosome no. 5
D.Duplication of short arm of chromosome no. 5

Exam Year(s)

MH SET - 2025, SET Exam - 2025,

Answer: A

Cri-du-chat syndrome is caused by deletion of the short arm of chromosome 5.

The syndrome results from loss of part of 5p (the critical region is around 5p15). Affected infants have a characteristic high-pitched, cat-like cry, microcephaly and intellectual disability. Most cases arise from a new deletion.

Translocation, inversion and duplication are other structural changes. A balanced translocation in a parent can occasionally lead to an unbalanced 5p loss in a child, but the cause of the syndrome itself is the deletion.

Discuss in Forum

14.

G-banding techniques are used for :

A.Protein banding in isoelectric focussing
B.DNA bands in pulse field electrophoresis
C.Karyotyping in cytogenetics
D.Microarray systems

Exam Year(s)

MH SET - 2025, SET Exam - 2025,

Answer: C

G-banding is used for karyotyping in cytogenetics.

In G-banding, metaphase chromosomes are briefly treated with trypsin and stained with Giemsa, giving each chromosome a characteristic pattern of dark and light bands. The pattern lets each chromosome be identified and structural changes such as deletions and translocations be detected.

Isoelectric focusing separates proteins by charge, pulsed-field electrophoresis separates large DNA molecules, and microarrays measure gene expression or variation by hybridisation. None of them uses Giemsa banding of chromosomes.

Chromosomal Alterations Questions and Answers

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