Cytogenetics I- Lecture 9/16/21

Question 1

How many chromosomes do we have?

Answer 1

46

Question 2

Normal Karyotype

Answer 2

46, XX or XY

Question 3

Karyotype nomenclature

Answer 3

Number of chromosomes, sex chromosomes, any additional abnormaloties

Question 4

Numerical Karyotype changes

Answer 4

Changes in the number of chromosomes

Question 5

Structural changes in Karyotype

Answer 5

Any rearrangement of chromosomes

Question 6

P arm

Answer 6

Short arm

Question 7

Centromere

Answer 7

Where the chromosomes line up

Question 8

Q arm

Answer 8

Long arm of a chromosome

Question 9

Metacentric

Answer 9

Centromere in the middle

Question 10

Submetacentric

Answer 10

Towards one Side

Question 11

Down syndrome nomenclature

Answer 11

47, XX/XY, +21

Question 12

Done syndrome features

Answer 12

Trisomy 21, flat facial features, upslanted palpebral fissures, single palmar crease

Question 13

Edwards syndrome karyotype

Answer 13

47, XX/XY, +18

Question 14

Features of edwards syndrome

Answer 14

Macrocephaly, micrognathia, congenital contracture low set ears, only 5% survive longer than a year

Question 15

Patau syndrome karyotype

Answer 15

47, XX/XY, +13

Question 16

Features of Patau syndrome

Answer 16

Scalp defects, microcephaly, microphthalmia, only 5% survive past 6 months

Question 17

Turner syndrom

Answer 17

Lymphedema, bicuspid aortic valve, short stature, gonadal regression

Question 18

Turner syndrome karyotype

Answer 18

45 X

Question 19

Klinefelter syndrome

Answer 19

Tall stature and long limbs, learning differences, small testes, infertility

Question 20

Klinefelters syndrome

Answer 20

47, XXY

Question 21

Pseudoautosomal region

Answer 21

Not inactivated region on X chromosome, region that recognizes the Y chromosome in male meiosis

Question 22

Nondisjunction

Answer 22

The failure of one or more of homologous chromosomes or sister chromatids to separate normally

Question 23

Trisomic rescue

Answer 23

Can get rid of one of the extra chromosomes, but can result in uniparental disobey

Question 24

Nondisjunction in meiosis I

Answer 24

Leads to heterodisomy, two different chromosomes from same parent

Question 25

Nondisjunction in meiosis 2

Answer 25

Winds up with two of the same chromosomes from one parent, isodisomy