How Do Mutations Affect Health & Craniofacial Decelopment (Exam IV)

Question 1

The average child is born with an estimated _______ new mutations that were not present in the parents

Answer 1

100-200

Question 2

1 in 50 infants is born with a diagnosable genetic condition that can be attributed to a:

Answer 2

Single major mutation

Question 3

Chromosome disorders include (5):

Answer 3

Aneuploidy, rearrangements/translocations, deletions, insertions & duplications

Question 4

Single gene disorders include:

Answer 4

Dominant, recessive & codominant

Question 5

Multifactorial or complex genetic disease occur due to:

Answer 5

Multiple genes or gene-environment

Question 6

What are the three types of genetic diseases:

Answer 6

1- chromosomes disorders
2- single gene disorders
3- Multifactorial/complex disorders

Question 7

An aberration in chromosome number caused by fault segregation of chromosomes during mitosis or meiosis

Answer 7

Aneuploidy

Question 8

Aneuploidy occurs as a result of:

Answer 8

Faulty segregation of chromosomes

Question 9

_______ infants is born with Aneuploidy

Answer 9

1 in 400

Question 10

Most cases of Aneuploidy originate in:

Answer 10

Female meiosis I

Question 11

The risk of Aneuploidy occurring in female meiosis I:

Answer 11

Increases with maternal age

Question 12

Down syndrome displays:

Answer 12

Oral manifestation of Aneuploidy

Question 13

Describe the key facial characteristics of Down syndrome (6):

Answer 13

1- upslanting palpebral fissures (upward eye slant)
2- low-set, small, folded ears
3- short neck
4- flattened nasal bridge
5- brushfield spots
6- epicanthal fold

Question 14

Down syndrome is also called:

Answer 14

Trisomy 21

Question 15

Most common chromosomal condition

Answer 15

Down syndrome

Question 16

How many babies per year are born with Down syndrome

Answer 16

1 in 700 in the US
(Around 6000 babies per year)

Question 17

Down syndrome is a result of:

Answer 17

Full or partial extra copy of chromosome 21

Question 18

Down syndrome can occur through:

Answer 18

1- nondisjunction
2- mosaicisim
3- translocation

Question 19

When chromosomes do not separate appropriately during meiosis

Answer 19

Nondisjunction

Question 20

Makes up greater than 95% of Down syndrome cases

Answer 20

Nondisjunction

Question 21

Makes up about 1% of Down syndrome cases- the least common form

Answer 21

Mosaicism

Question 22

Makes up about 4% of Down syndrome cases

Answer 22

Translocation

Question 23

When the egg is fertilized & has the appropriate number of chromosomes to starts, but later during different mitosis there is failure of the chromosomes to split properly

Answer 23

Mosaicism

Question 24

Down syndromes cases caused by translocation occur due to a full or partial copy of chromosome 21:

Answer 24

Attaching to another chromosome

Question 25

Most common chromosome for chromosome 21 to attach to during translocation

Answer 25

Chromosome 14

Question 26

The only factor that has been linked to having an increased change of Down syndrome resulting from Nondisjunction or Mosaicism

Answer 26

Maternal age

Question 27

Due to higher birth rates in younger women, 80% of babies born with Down syndrome are born to women:

Answer 27

Under 35 years of age

Question 28

5% of Down syndrome cases have been traced to the:

Answer 28

Father

Question 29

_____ is not a factor in trisomy 21 (Nondisjunction) & Mosaicism

Answer 29

Heredity

Question 30

In 1/3 of cases of Down syndrome resulting from translocation there is a ____ component

Answer 30

Hereditary (around 1% of all cases)

Question 31

Describe the muscle tone & stature of an individual with Down syndrome

Answer 31

Low muscle Small stature

Question 32

Cognitive delay in a an individual with Down syndrome can be:

Answer 32

Mild to severe

Question 33

A single deep crease across the center of the palm seen in individuals with down syndrome

Answer 33

Transverse palmar crease (simian crease)

Question 34

80% of adults with Down syndrome reach the agree of _____ & may even live longer

Answer 34

60

Question 35

About half of the children born with Down syndrome are born with:

Answer 35

Some type of congenital heart defect

Question 36

Some individuals with Down syndrome may have misalignment of the top two vertebra in the neck & this is called:

Answer 36

Atlantoaxial instability

Question 37

Condition that some individuals with Down syndrome have, that puts them at risk for serious injury to the spinal cord from overextension of the neck

Answer 37

Atlantoaxial instability

Question 38

Because of soft tissue & skeletal changes that lead to the obstruction of their airways, children & adults with Down syndrome:

Answer 38

Are at a greater risk of obstructive sleep apnea

Question 39

Individuals with Down syndrome have a greater risk of developing:

Answer 39

1. Heart defects 2. Spinal problems 3. GI defects 4. Immune disorders 5. Sleep apnea 6. Obesity 7. Leukemia 8. Dementia 9. Other problems

Question 40

Three questions you should ask a patient that comes into your office with Down syndrome:

Answer 40

1- heart defects 2- spinal problems 3- seizure history

Question 41

Looking on the inside of an individual with down syndrome’s teeth can reveal if they have:

Answer 41

GERD

Question 42

What is the preferred language when describing someone with down syndrome:

Answer 42

Child with Down syndrome

Question 43

Down syndrome is a condition or syndrome, NOT a:

Answer 43

Disease

Question 44

People ____ Down syndrome, they do not ____ from it nor are they _____ by it

Answer 44

Have Suffer Affiliated

Question 45

What word should you use instead of “normal” when describing an individual with Down syndrome

Answer 45

Typical

Question 46

Caused by chromosome breakage or by recombination between mispaired chromosomes during meiosis

Answer 46

Chromosomal rearrangements

Question 47

Only chromosomal rearrangements that change the _____ of genes or that _____ an important gene are likely to cause disease

Answer 47

Copy number; break up

Question 48

1 in 1000 infants are born with a:

Answer 48

Symptomatic chromosomal rearrangement

Question 49

Cri-du-chat syndrome is caused by a _____ & has a:

Answer 49

Chromosomal rearrangement Oral manifestation

Question 50

The high-pitched cry that resembles a cat sound is found in individuals with:

Answer 50

Cri du chat syndrome

Question 51

Cri due chat syndrome is caused by a deletion on:

Answer 51

Chromosome 5

Question 52

Prevalence of Cri due chat syndrome:

Answer 52

1 in 20-50,000

Question 53

Intellectual disability & delayed development, microcephalic, low birth weight, hypotonia, transverse palmar crease & possible heart defects are all characteristic of:

Answer 53

Cri du chat syndrome

Question 54

Hypertelorism, low-set ears, micrognathia, moon facies, epicanthal folds, broad nasal bridge & downward-slanting palpebral fissures are all facial features of:

Answer 54

Cri du chat syndrome

Question 55

In 10% of Cri du chat syndrome cases, it is inherited by:

Answer 55

Unaffected parents

Question 56

What sex is Cri du chat more prevalent in:

Answer 56

Girls (4:3)

Question 57

Single-gene disorders are referred to as:

Answer 57

Mendelian disorders

Question 58

Expressed in heterozygotes who carry a single copy of the mutation

Answer 58

Dominant

Question 59

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

Answer 59

Recessive

Question 60

Multifactorial diseases may also be referred to as:

Answer 60

Polygenic or complex diseases

Question 61

Disease caused not by a single major mutation but by interacting genetic & environmental risk factors

Answer 61

Multifactorial diseases

Question 62

Most of the common diseases from allergies to diabetes & coronary heart disease are:

Answer 62

Multifactorial

Question 63

Neural crest lining on either side of the neural crest tube, migrate around & forms the:

Answer 63

Craniofacial bones & palate

Question 64

Median palatal process is derived from:

Answer 64

Medial nasal processes & frontal nasal processes

Question 65

The median palatal process forms the:

Answer 65

Primary palate

Question 66

Derived from the frontonasal prominence

Answer 66

Nasal septum

Question 67

derived from the maxillary process of the first pharyngeal arch

Answer 67

Palatal shelves

Question 68

In the basic steps of palatogenesis growth occurs at ____ weeks, elevation occurs at _____ weeks, & fusion occurs at _____ weeks

Answer 68

7 weeks 8 weeks 9 weeks

Question 69

Formation of the secondary plate

Answer 69

Palatogenesis

Question 70

Separates the nasal cavity from the oral cavity

Answer 70

Secondary palate

Question 71

The secondary palate separates the:

Answer 71

Nasal cavity from the oral cavity

Question 72

The secondary palate is needed for (5):

Answer 72

1- swallowing 2- taste 3- vomiting 4- breathing 5- speech

Question 73

Prevalence of cleft palates

Answer 73

1/1500 births

Question 74

Prevalence of cleft lip + cleft palate

Answer 74

1/300 - 1/2500 births

Question 75

One of the most common birth defects in humans

Answer 75

Cleft lips & cleft palates

Question 76

Cleft lips & palates are a result of failed:

Answer 76

Palatogenesis

Question 77

A specific defect in palatogenesis during weeks 7-10 of pregnancy

Answer 77

Cleft palate only

Question 78

A secondary defect for a failed lip fusion during weeks 4-7 of pregnancy

Answer 78

CP in CL/CP

Question 79

70% of cleft palates occur due to ______ whereas 30% of cases are due to _____

Answer 79

Non-syndromic cleft palate Syndromic cleft palate

Question 80

List the identified environmental causes of a cleft palate (5):

Answer 80

Alcohol Phenytoin Retinoic acid Radiation TCDD

Question 81

What are some of the identified nutritional/metabolic causes of a cleft palate (4):

Answer 81

Low methionine Low folic acid Maternal DM Hypervit. A