10/25: How do Mutations Affect Health and Craniofacial...

Question 1

What are mutations an important cause of?

Answer 1

Poor health

Question 2

What are chromosome disorders?

Answer 2

Aneuploidy, rearrangements/translocations, deletions, insertions, duplications

Question 3

What are single gene disorders?

Answer 3

Dominant, recessive, codominant

Question 4

What are multifactorial or complex genetic diseases?

Answer 4

Multiple genes, gene-environment

Question 5

What is an abberration in chromosome number caused by faulty segregation of chromosomes during mitosis or meiosis?

Answer 5

Aneuploidy

Question 6

When do most cases of aneuploidy originate in?

Answer 6

Female meiosis I and the risk rises with maternal age

Question 7

What are examples of aneuploidy with oral manifestations?

Answer 7

Upslanting palpebral fissures
Low-set, small, folded ears
Short neck
Epicanthal fold
Flattened nasal bridge
Brushfield spots

Question 8

What is down syndorme (trisomy 21)

Answer 8

Full or partial extra copy of chromosome 21

Question 9

What is the most common chromosomal condition?

Answer 9

Downsyndrome (trisomy 21)

Question 10

What is the most to least common form of down syndrome?

Answer 10

Nondisjunction (most)
Translocation
Mosaicism (least)

Question 11

What is translocation of down syndrome?

Answer 11

Full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14

Question 12

What is the only factor that has been linked to an increased chance of having a baby with down syndrome resulting from nondisjunction or mosaicism

Answer 12

Maternal age

Question 13

80% of children with down syndrome are born to women under _______ years of age

Answer 13

35 years
5% have been traced to the father

Question 14

What is not a factor in trisomy 21 (nondisjunction) and mosaicism

Answer 14

Heredity

Question 15

In 1/3 of cases of down syndrome resulting from tanslocation there is a ____________ component

Answer 15

Hereditary

Question 16

What are symptoms of down syndrome?

Answer 16

Low muscle tone
Small stature
Cognitive delay
Transverse palmar crease

Question 17

What should you ask a patient with down syndrome prior to leaning them back?

Answer 17

Heart defects
Spinal problems
Seizures

Question 18

What should you know about a patient with down syndrome?

Answer 18

Heartburn
Sleep apnea
Endocrine problems
Dental problems

Question 19

People with down sydrome should always be referred to as

Answer 19

people first

Question 20

People _____ down syndrome they do not __________

Answer 20

Have; suffer from it

Question 21

______ is preferred over _______

Answer 21

Typical; normal

Question 22

___________ has replaced mental retardation

Answer 22

Intellectual disability or cognitive disability

Question 23

What is chromosomal rearrangements caused by?

Answer 23

Chromosome breakage or recombination between mispaired chromosomes during meiosis

Question 24

What is cat’s cry

Answer 24

Infants with this condition often have a high-pitched cry that sounds like that of a cat

Question 25

What is cri du chat syndrome?

Answer 25

partial loss of chromosome 5

Question 26

What are features of cri du chat?

Answer 26

Intellectual disability and delayed development Small head size Low birth weight Weak muscle tone Transverse palmar crease Some heart defects

Question 27

What are facial features of cri du chat?

Answer 27

Widely set eyes low set ears small jaw rounded face epicanthal folds broad nasal bridge

Question 28

What are single-gene disorders also known as

Answer 28

mendelian disorders

Question 29

What are single-gene disorders?

Answer 29

Mutations in a single gene

Question 30

What is a dominant mutation?

Answer 30

Expressed in heterozygotes, who carry a single copy of the mutation

Question 31

What are recessive mutations?

Answer 31

Expressed only in homozygotes, who have the mutation in both copies of the gene

Question 32

What are multifactorial diseases?

Answer 32

Polygenic diseases or complex diseases

Question 33

What are multifactorial diseases caused by?

Answer 33

Not a single mutation but by a interacting genetic and environmental risk factors

Question 34

What does the median palatal process (derived from medial nasal processes and frontonasal process) form?

Answer 34

Primary palate

Question 35

What is derived from the frontonasal prominence?

Answer 35

Nasal septum

Question 36

What is derived from the maxillary process of the first pharyngeal arch?

Answer 36

Palatal shelves

Question 37

What separates the nasal cavity from the oral cavity?

Answer 37

Secondary palate

Question 38

What is the secondary palate needed for?

Answer 38

Swallowing taste vomiting breathing speech

Question 39

What is one of the most common birth defects in humans?

Answer 39

Cleft palate

Question 40

What is a cleft palate result from?

Answer 40

Failed palatogenesis - failure in PS growth - failure in PS elevation - failure in PS fusion

Question 41

What etiology is different?

Answer 41

CPO is different than that of cleft lip with cleft palate (CL/CP)

Question 42

What is CPO a specific defect in?

Answer 42

Palatogenesis (weeks 7-10)

Question 43

CP in CL/CP is a ________ defect for a failed lip fusion

Answer 43

Secondary defect (weeks 4-7)

Question 44

What is a more frequent case?

Answer 44

Non syndromic cleft palate (not associated with a known syndrome)

Question 45

What are some identified causes of cleft palate?

Answer 45

Environmental - alcoholic - phenytion - retinoic acid - radiation Nutritional/metabolic - low methionine - low folic acid - maternal DM Genetic - 350+ mendelian disorders - chromosomal aberrations

Question 46

What does a poor job of detecting facial anomolies?

Answer 46

Prenatal screening

Question 47

What is an early intrauterine event?

Answer 47

Cleft palate, screening occurs 18-22 weeks

Question 48

Describe the etiology of cleft palate

Answer 48

Multifactorial (still poorly known) Gene - environment interactions Genetic susceptibility Environmental toxins Nutrition Life style (smoking, alcohol)