1)

The two most commonly used method for prenatal diagnosis are:-
- Amniocentesis which is getting the fetal cells from the amniotic fluid surrounding
the fetus and is done during 16th week of pregnancy.
- Chorionic Villus Sampling(CVS) which is getting the fetal cells from the placenta
vaginally and is done during the 10th week of pregnancy.

The CVS method is done earlier at 10 weeks of pregnancy and it gives the advantage of
early knowledge of genetic diseases, and if it’s elected to terminate the pregnancy then
the maternal risks are much lower at 10-11 weeks as compared to 16-18 weeks.

2)
Trisomy is a condition where you have an extra copy of only one chromosome and is a
type of Aneuploidy.

Triploidy is a condition where you have extra copies of sets of chromosomes and is a
type of Polyploidy.

Aneuploidy is a chromosomal mutation in haploid cells in which there is one extra

chromosome, or one or more fewer chromosomes. Example, Individuals with Down
syndrome have three copies of chromosome 21.

Polyploidy is a chromosomal mutation in which a cell has entire extra sets of extra
chromosomes. Instead of being diploid, in which the cell contains two sets of
chromosomes, it may be triploid, or tetraploid.

3)
Triploidy is the most likely chromosomal abnormality to result from dispermy.

4)
The failure of chromosomes to separate during anaphase is known as nondisjunction
and it is the most common cause of aneuploidy.
It can occur in meiosis as well as mitosis but most commonly in meiosis. There are two
cell divisions in meiosis and nondisjunction can occur in either one of them.
If nondisjunction occurs during meiosis I then all the game sets will be abnormal and
carry either both members of a chromosomal pair or neither member of chromosomal
pair.
If nondisjunction occurs during meiosis II then there will be 50% abnormal cells and
50% normal cells.

5)
a) XYY syndrome - 47,XYY
- It is a chromosomal disorder affecting males in which there is one extra copy of Y
chromosome which leads to increased chromosomes to 47

b) Edwards syndrome - 47,+18

- In this chromosomal disorder there is an extra chromosome present at
chromosome number 18. Also known as Trisomy 18

c) Patau syndrome - 47,+13

- In this chromosomal disorder there is one extra chromosome present at
chromosome number 13.

d) Klinefelter syndrome - 47,XXY

- In this chromosomal disorder there is an extra X chromosome present.

e) Down syndrome - 47,+21

- In this chromosomal disorder there is one extra copy of chromosome 21. Also
known as Trisomy 21.

6)
a) 69,XXX - Polyploid (triploid) female
b) 92,XXXX - Polyploid (tetraploid) female
c) 47,XY,+8 - Aneuploid (trisomy) male
d) 45,X - Aneuploid (monosomy) female
e) 46,XY,del(13q14) - Aneuploid male
7)
a) Deletion
b) Duplication
c) Inversion
d) Translocation