W2 - Genetics

Question 1

define monosomy

Answer 1

the loss of an individual chromosome
1

Question 2

define trisomy

Answer 2

addition of a chromosome
3

Question 3

give 3 examples of trisomy

Answer 3

Trisomy 21 – Downs syndrome
Trisomy 13 – Patau syndrome
Trisomy 18 – Edwards Syndrome

Question 4

give 2 genetic conditions due to sex chromosome abnormalities

Answer 4

turners
Klinefelter’s

Question 5

what causes turners

Answer 5

loss of X

Question 6

what causes Klinefelter’s

Answer 6

addition of X in boys
XXY

Question 7

what is the mechanism of inheritance for neurofibromatosis type 1

Answer 7

autosomal dominant

Question 8

give examples of conditions with autosomal dominant inheritance

Answer 8

Tuberous sclerosis, Marfan Syndrome, Achondroplasia, Huntington’s Disease.

Question 9

what do mitochondrial conditions typically affect

Answer 9

o Heart
o Skeletal muscle system
o Central nervous System

Question 10

what is the mechanism of inheritance for MERRF and MELAS

Answer 10

mitochondrial maternal inheritance

Question 11

what are the 3 rules for mitochondrial inheritance

Answer 11

1.M and F can be affected
2.Passed from affected F
3.No transmission from affected M