chromosome II, numerical chromosome abnormality

Question 1

types of numerical abnormalities

Answer 1

1. polyploidy

2. aneuploidy

Question 2

polyploidy

Answer 2

more than 2 sets of chromosome
example
triploidy, the individual has 3 sets of haploid chromosomes(69 chromosomes)

Question 3

aneuploidy

Answer 3

gain or loss of one or more chromosomes.

example

1. trisomy= 46+1= 47 chromosomes
2. monosomy= 46-1=45 chromosomes

Question 4

nomenclature to identify chromosome abnormality

Answer 4

no. of chromosomes, sex chromosomes,+/-

Question 5

normal male and female

Answer 5

1. 46, XY

2. 46, XX

Question 6

triploidy male and female

Answer 6

1. 69,XXY/ 69,XYY

2. 69, XXX

Question 7

TRISOMY

Answer 7

47, XY,+21

Question 8

MONOSOMY

Answer 8

45,XX,-21

Question 9

MOSAIC

Answer 9

46,XX/47,XX,+21

Question 10

NON DYSJUNCTION IN MEIOSIS 1

Answer 10

1. two homologous chromosome fil to separate

2. results in trisomy/ nullisomic embryos.

Question 11

non-disjunction in meiosis 2

Answer 11

1. two sister chromosomes do not separate.

Question 12

polyploidy

Answer 12

caused by fertilization abnormalities
results in

1. digyny
2. diandry

Question 13

digyny

Answer 13

diploid ovum as a result of non-expulsion of the second polar body and may be fertilized by a haploid spermatozoa

Question 14

diandry

Answer 14

fertilization of one oocyte by two spermatozoa

Question 15

mosaicism

Answer 15

occurs when there are two or more different cell lines present, those different cell lines have different karyotype which is chromosome arrangements

Question 16

chimerism

Answer 16

two or more cell lines originating from two or more zygotes may arise from early fusion.

Question 17

trisomy 21 down syndrome

Answer 17

1. 47,XX/ 47,XY, +21
2. caused by non-disjunction of chromosome 21
3. be due to mosaic trisomy 21

Question 18

Klinefelter syndrome

Answer 18

1. 47, XXY
2. tall structure
3. reduced muscle tone