Mutation and the genetic disorders NCERT names — practice questions

Question 1 · difficulty L1 · recall

Monosomy X is associated with:

• A. Turner syndrome
• B. sickle-cell anaemia
• C. Klinefelter syndrome
• D. Down syndrome

Question 2 · difficulty L1 · recall

XXY chromosome complement is associated with:

• A. Klinefelter syndrome
• B. cystic fibrosis
• C. Turner syndrome
• D. Down syndrome

Question 3 · difficulty L1 · recall

Which chromosomal abnormality causes Down syndrome?

• A. Loss of one X chromosome in every case
• B. Monosomy of chromosome 21
• C. Trisomy of chromosome 18 only
• D. Trisomy of chromosome 21

Question 4 · difficulty L2 · understanding

Trisomy 21 causes:

• A. Turner syndrome
• B. Klinefelter syndrome
• C. phenylketonuria
• D. Down syndrome

Question 5 · difficulty L3 · application

A human male has the karyotype 47,XXY. Which disorder does this indicate?

• A. Klinefelter syndrome
• B. Turner syndrome
• C. Down syndrome
• D. Sickle-cell anaemia due to a globin-gene mutation

Question 6 · difficulty L3 · understanding

Which one of the following disorders is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule?

• A. Thalassemia
• B. Sickle-cell anaemia
• C. Phenylketonuria
• D. Haemophilia

Question 7 · difficulty L3 · understanding

With the help of given pedigree, find out the probability for the birth of a child having no disease and being a carrier (has the disease mutation in one allele of the gene) in $F_3$ generation.

• A. $1 / 8$
• B. Zero
• C. $1 / 4$
• D. $1 / 2$

Question 8 · difficulty L3 · understanding

Aneuploidy is a chromosomal disorder where chromosome number is not the exact copy of its haploid set of chromosomes, due to : A. Substitution B. Addition C. Deletion D. Translocation E. Inversion Choose the most appropriate answer from the options given below :

• A. C and D only
• B. D and E only
• C. A and B only
• D. B and C only

Question 9 · difficulty L3 · understanding

In which disorder change of single base pair in the gene for beta globin chain results in change of glutamic acid to valine ?

• A. Thalassemia
• B. Sickle cell anemia
• C. Haemophilia
• D. Phenylketonuria

Question 10 · difficulty L3 · understanding

Which of the following statements are correct about Klinefelter’s Syndrome? A. This disorder was first described by Langdon Down (1866). B. Such an individual has overall masculine development. However, the feminine development is also expressed. C. The affected individual is short statured. D. Physical, psychomotor and mental development is retarded. E. Such individuals are sterile. Choose the correct answer from the options given below :

• A. C and D only
• B. B and E only
• C. A and E only
• D. A and B only