Craniofacial anomalies and genetics

Question 1

Pleiotrophy

Answer 1

One gene affecting different characteristics

Question 2

Genotype: Qualitative trait example

Answer 2

ABO blood antigen

Question 3

Genotype: Quantitative trait example

Answer 3

Height, weight etc

Question 4

Homeobox genes role

Answer 4

1. Craniofacial shape and patterning
2. Patterning of the dentition

Question 5

What are MSX1 and MSX2 responsible for?

Answer 5

The initiation development position (pattering) and morphodifferention of tooth buds

Question 6

Number of paired chromosomes

Answer 6

22

Question 7

Environmental diseases

Answer 7

infection, trauma, poisoning etc

Question 8

Genetic diseases

Answer 8

1. Chromosomal
2. Single gene
3. Multifactorial

Question 9

Single gene diseases types

Answer 9

Question 10

Prevalence of genetic disease

Answer 10

0.5% of population

Question 11

Mutation in FGFR3

Answer 11

Achondroplasia or dwarfism, down to a single mistake in the coding, affects cartilage

Question 12

Autosomal dominant disorder example

Answer 12

1. FGFR3 mutation (dwarfism)
2. Craniosynostosis (crouton syndrome)
3. Cleidocranial dysostosis
4. Van der Woude syndrome
5. Dentinogenesis imperfecta

Question 13

Cleidocranial dysostosis

Answer 13

Question 14

Van der Woude syndrome

Answer 14

Cleft lip and palate as well as lower lip pits

Question 15

Dentinogenesis imperfecta

Answer 15

A disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.

Question 16

Penetrance

Answer 16

probability that presence of disease genotype will cause disease

Question 17

Expressivity

Answer 17

variation in the severity of expression of a particular gene (e.g seen in Treacher Collin syndrome)

Question 18

Autosomal recessive examples

Answer 18

Treacher Collins syndrome

Question 19

X-linked disease

Answer 19

Question 20

Ectodermal dysplasia

Answer 20

X- linked recessive, severity is much milder for women as only express 50% of X genes.