Cytogenetics Questions and Answers – Chromosomal Abnormalities : Aneuploidy


This set of Advanced Cytogenetics Questions and Answers focuses on “Chromosomal Abnormalities : Aneuploidy”.

1. In aneuploidy the entire set of chromosome is not involved in duplication of deletion.
a) True
b) False
View Answer

Answer: a
Explanation: In aneuploidy the change is in one or two chromosomes and not an increase or decrease of an entire set. This makes it different from euploidy.

2. If an organism has 14 chromosomes, the number of chromosome generated by nullisomy will be_____________________
a) 15
b) 7
c) 13
d) 12
View Answer

Answer: d
Explanation: Nullisomy results in (2n-2) set of chromosome, here n=7, so it will result in 12 chromosome over all.

3. Turner’s syndrome is a result of _________________
a) Nullisomy
b) Monosomy
c) Trisomy
d) Polysomy
View Answer

Answer: b
Explanation: In Turner’s syndrome one set of sex chromosmome is lost resulting in 44+XO females who have masculine condition. This is a result of monosomy.

4. Aneuploidy is usually deleterious as _________________
a) Chromosomal pairing is hampered
b) Gene balance is disrupted
c) Size of individual may vary
d) Chromosomal disintegration is increased
View Answer

Answer: b
Explanation: In case of aneuploidy there is loss or gain in single chromosome which results in dis-balance of the genes and their products. This is a reason that aneuploids are usually lethal.

5. Which of the following is an example of trisomy ________________
a) Endosperm
b) Klinefelter
c) Turner
d) Xeroderma
View Answer

Answer: b
Explanation: Klinefelter syndrome results from trisomy in sex chromosome producing 44+ XXY. Turner is due to monosomy, endosperm is triploid i.e. the complete set of chromosome is increased and XP is due to mutation or deletion in gene not entire chromosome.
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6. ________________ aneuploidy is better tolerated.
a) Nullisomic
b) Autosomal
c) Sex chromosomal
d) Chromosome 13
View Answer

Answer: c
Explanation: In case of sex chromosome due to dosage compensation in female one of X chromosome is inactivated. This is similar to the absence of a sex chromosome, which makes sex chromosome aneuploidy less lethal.

7. Patau syndrome is a result of which of the following?
a) Non-disjunction of sex chromosome in female
b) Non- disjunction of sex chromosome in male
c) Non-disjunction of chromosome 21
d) Non-disjunction of chromosome 13
View Answer

Answer: d
Explanation: Non-disjunction of chromosome 13 will result in a trisomy and monosomy if the gamete is fertilized. This results in Pataeu syndrome. It is an autosomal aneuploidy.

8. The probability of aneuploidy in offspring increases with age as _________________
a) Chromosomes tend to lose information with age
b) Pairings at dichtyotene stages are gradually lost
c) Ability of fertilization with age is gradually lost
d) Chromosomal aberration with age
View Answer

Answer: b
Explanation: The chromosomes with age tend to lose the proper pairings that existed when they were in dictyotene stage as this is prolonged over decades. This leads to improper segregation causing trisomy.

9. A non-disjunction in the 1st phase of meiosis will lead to ______________
a) Monosomy
b) Nullysomy
c) Disomy
d) Trtrasomy
View Answer

Answer: b
Explanation: Nullysomy in chromosome is a loss of 2 chromosomes i.e. loss of a chromosomal pair. This can result from passing of both homologous chromosomes to the same pole during meiosis 1- this pole will produce trisomic gametes while the counterpart will produce nullisomic gametes.

10. At what maternal age the probability of having a child with Down’s syndrome is increased drastically?
a) 25
b) 30
c) 35
d) 45
View Answer

Answer: c
Explanation: After the age of 35 the probability of non-disjunction in gamete leading to Down’s syndrome increases to 1/290. With increasing age it increases still further.

11. Chromosome ____________ trisomy leads to Edward’s syndrome.
a) 12
b) 13
c) 18
d) 21
View Answer

Answer: c
Explanation: Chromosome 18 trisomy will lead to Edward’s syndrome. Trisomy in chromosome 13 and 21 leads to Patau and Down’s syndrome respectively.

12. Sexual mosaics lead to formation of _______________
a) Female from male egg
b) Gynandromorph
c) Klinefelter
d) Trisomy
View Answer

Answer: b
Explanation: In case of sexual mosaics there is loss in one of the sex chromosomes in some cells. In case of male there will thus be a mosaic of male and female parts corresponding to XY and XO depending on which part has which combination.

13. Extreme klinefelter is an example of _____________________
a) Monosomy
b) Trisomy
c) Disomy
d) Tetrasomy
View Answer

Answer: d
Explanation: In extreme klinefelter the chromosomal constitution is 44+XXXY, there are two extra X chromosomes which leads to more severe Klinefelter condition. Thus, it is tetrasomy.

14. Choose the wrong statement.
a) Maternal trisomy in a gamete is more severe in paternal gamete trisomy
b) Tetrasomy and nullisomy are due to change in chromosome number by 2
c) Disomy has severe effects
d) Edward’s syndrome is due to trisomy of chromosome 18
View Answer

Answer: c
Explanation: Disomy is nothing other than the normal chromosome numbers; this is having no harmful effect. The option a, b and d are however true.

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Manish Bhojasia, a technology veteran with 20+ years @ Cisco & Wipro, is Founder and CTO at Sanfoundry. He lives in Bangalore, and focuses on development of Linux Kernel, SAN Technologies, Advanced C, Data Structures & Alogrithms. Stay connected with him at LinkedIn.

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