L8 Craniofacial Genetics

Question 1

Gene is a ______ unit of ________ information located on the ____________ and consisting of _________.

Answer 1

discrete
hereditary
chromosomes
DNA

Question 2

Genome is the ________ set of ______ in the chromosomes of each cell of a human being.

Answer 2

complete
genes

Question 3

Allele is an _______ form of a ______ that is located at a _______ position on a specific chromosome.

Answer 3

alternative
gene
specific

Question 4

Phenotype is the _____ expression of information contained in the genetic makeup of an individual.

Answer 4

physical

Question 5

Genotype is the _____ makeup of an organism and is inherited down to the next generation.

Answer 5

genetic

Question 6

Homozygous means containing a pair of the _______ alleles.

Answer 6

same

Question 7

Heterozygous means containing 2 ______ alleles

Answer 7

different

Question 8

Chromosome is an _____ of _____ that carries _______. It has a _____ region that contains sister chromatids.

Answer 8

aggregate
genes
DNA
centromere

Question 9

Chromosomes have ______ pairs which is responsible for various traits known as _________ chromosomes.

Answer 9

22
autosomal

Question 10

Chromosomes have ____ chromosomes responsible for gender which is known as ______ chromosomes

Answer 10

2
sex-linked

Question 11

Mutation is an ______ in the_______ sequence of a DNA that results in changes to a ______.

Answer 11

alteration
nucleotide
genome

Question 12

3 types of mutations are

Answer 12

Harmful -organisms less able to survive (genetic disorders, cancer)
Beneficial - allow organism to better survive ( sickle cell anaemia )
Neutral - neither harmful nor helpful to organism. ( red hair )

Question 13

Down syndrome occurs when an individual has a ____ or _____ extra copy of chromosome _____. Possesses _____ chromosomes and chromosome 21 undergoes _______. It is also known as _________.

Answer 13

full
partial
47
triplication
Trisomy 21 syndrome

Question 14

_____ is the only factor that has been linked to Down Syndrome.

Answer 14

Maternal age

Question 15

4 types of inheritance patterns are?

Answer 15

Autosomal Dominant Gene
Autosomal Recessive Gene
Sex-linked
Codominant

Question 16

Autosomal Dominant Gene is when?

Answer 16

1 mutated copy of a gene in each cell is sufficent for a person to be affected by an autosomal disorder.

Question 17

Autosomal Recessive Gene is when?

Answer 17

Both copies of genes in each cell have mutation and usually passed on by 2 carriers.

Question 18

Autosomal Dominant Gene can have a _____ chance of affecting males and females. Eg is ______.

Answer 18

50%
Marfan syndrome

Question 19

Autosomal Recessive Gene can have a _____ chance of affecting, _____ chance of carrier and _____ chance of unaffected. Eg is _____.

Answer 19

25%
50%
25%
Sickle cell anaemia

Question 20

X-linked dominant gene is caused by _____ in genes on the ____ chromosome, one of the two sex chromosomes in each cell.

Answer 20

mutations
X

Question 21

In X-linked dominant gene, all ______ of affected father will be affected. No ____ will be affected. _________ of affected mother have ____ chance of being affected. Eg is _____.

Answer 21

daughters
sons
sons and daughters
50%
Rett syndrome

Question 22

X-linked recessive gene is caused by _____ in genes on the _____ chromosome. Eg is ____.

Answer 22

mutations
X
Haemophilia

Question 23

Y-linked gene is caused by ______ in gene on the __ chromosomes. Only ____ are affected. Eg is ________.

Answer 23

mutations
Y
males
Y chromosome infertility

Question 24

Codominance gene is when both ____ are equally strong and _____ in the hybrid genotype. Both alleles influence ____ traits. Eg is ______.

Answer 24

alleles
visible
genetic
ABO blood groups

Question 25

Congenital abnormalities are caused by problems during the _____'s development before ______.

Answer 25

fetus birth

Question 26

5 categories of congenital abnormalities are?

Answer 26

1- chromosome abnormalities 2-single gene abnormalities 3-conditions during pregnancy that affect the baby 4-combination of genetic & environmental problems 5-unknown causes

Question 27

Defects involving craniofacial dvelopment are?

Answer 27

Treacher Collins Syndrome Crouzon Syndrome Cleft palate and cleft lip

Question 28

Treacher Collins Syndrome affects the development of _____ and other ______ of the face. Also known as ___________. Gene associated with _____.

Answer 28

bones tissues Mandibulofacial Dystosis autosomal dominant gene

Question 29

Symptoms of Treacher Collins Syndrome are?

Answer 29

-underdeveloped facial bones -very small jaw and chin - a cleft palate

Question 30

Diagnosis of Treacher Collins Syndrome are?

Answer 30

-small mandible -zygomatic bone hypoplasia -ears are not fully formed

Question 31

Prognosis of Treacher Collins Syndrome are?

Answer 31

-Hearing defects -Cleft palate -Defective tooth development

Question 32

The responsible chromosome for Treacher Collins Syndrome is chromosome ____.

Answer 32

5

Question 33

Crouzon Syndrome is a genetic disorder characterized by the ______ of certain _______.

Answer 33

premature fusion skull bones

Question 34

Symptoms of Crouzon Syndrome are?

Answer 34

-bulging eyes and vision -beaked nose, underdeveloped upper jaw -hearing loss

Question 35

Mutations in the _____ (FGFR2) gene located on chromosome ____ causes Crouzon Syndrome. It is a _______ pattern.

Answer 35

fibroblast growth factor receptor 2 10 autosomal dominant

Question 36

Cleft lip and cleft palate are ____ and ____ malformations that occur early in pregnancy.

Answer 36

facial oral

Question 37

Clefting results when there is _____ enough tissue in the mouth or lip area, and the tissue available ______ together properly.

Answer 37

not do not join

Question 38

What problems are associated with cleft lip and cleft palate?

Answer 38

-eating problems -ear infection -speech problems -dental problems

Question 39

A defect in the alveolus can?

Answer 39

-displace or rotate permanent teeth -prevent permanent teeth from appearing -prevent the alveolar ridge from forming