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Applied Biochem > How Do Mutations Affect Health And Craniofacial Development- Exam IV > Flashcards

How Do Mutations Affect Health And Craniofacial Development- Exam IV Flashcards

1
Q

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

A

100-200

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2
Q

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

A

Single major mutation

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3
Q

Chromosome disorders include: (5)

A

Anuelploidy, rearrangements/translocations, deletions, insertions, & duplication

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4
Q

Single gene disorders include:

A

Dominant, recessive, codominant

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5
Q

Multi factorial or complex genetic diseases occur due to:

A

Multiple genes or gene-environment

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6
Q

What are the 3 types of genetic diseases:

A
  1. Chromosome disorders
  2. Single gene disorders
  3. Multifactorial/complex disorders
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7
Q

An aberration in chromosome number cased by faulty segregation of chromosomes during mitosis or meiosis

A

Aneuploidy

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8
Q

Aneuploidy occurs as a result of:

A

Faulty segregation of chromosomes

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9
Q

_______ infants is born with Aneuploidy

A

1 in 400

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10
Q

Most cases of Aneuploidy originate in ______

A

Female meiosis 1

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11
Q

The risk of aneuploidy occurring in female meiosis I:

A

Increases with maternal age

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12
Q

Down syndrome displays:

A

Oral manifestations of aneuploidy

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13
Q

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

A
  1. Upslanting palpebral tissues (upward eye slant)
  2. Low-set, small folded ears
  3. Short neck
  4. Flattened nasal bridge
  5. Brushfield spots
  6. Epicathal fold
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14
Q

Down syndrome is also called:

A

Trisomy 21

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15
Q

What is the most common chromosomal condition?

A

Down syndrome

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16
Q

How many babies per year are born with Down syndrome?

A

1 in 700 in the US (~6000 babies)

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17
Q

Down syndrome is a result of:

A

Full or partial extra copy of chromosome 21

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18
Q

Down syndrome can occur through

A
  1. Nondisjunction
  2. Mosaicism
  3. Translocation
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19
Q

When chromosomes do not separate appropriately during meiosis:

A

Nondisjunction

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20
Q

____ makes up for greater than 95% of Down syndrome cases:

A

Nondisjunction

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21
Q

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

A

Mosaicism

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22
Q

Makes up about ~4% of Down syndrome cases

A

Translocation

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23
Q

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

A

Mosaicism

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24
Q

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

A

Attaching to another chromosome

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25
Q

What is the most common chromosome for chromosome 21 to attach to during translocation:

A

14

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26
Q

The only factor that has been linked to an increased change of having a baby with Down syndrome resulting from nondisjunction or mosaicism

A

Maternal age

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27
Q

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

A

Under 35 years of age

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28
Q

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

A

Father

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29
Q

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

A

Heredity

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30
Q

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

A

Hereditary (~1% of all cases)

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31
Q

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

A

Low muscle tone & small stature

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32
Q

Cognitive delay in an individual with Down syndrome can be:

A

Mild to severe

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33
Q

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

A

Transverse palmar crease (simian crease)

34
Q

80% if adults with Down syndrome reach the age of _____ and may even live longer

A

60

35
Q

About half of individuals with Down syndrome are born with some type of:

A

Congenital heart defect

36
Q

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

A

Atlantoaxial instability

37
Q

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

A

Atlantoaxial instability

38
Q

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

A

Are at a greater risk of obstructive sleep apnea

39
Q

Individuals with Down syndrome are at risk of developing:

A
  1. Heart defects
  2. Spinal problems
  3. GI defects
  4. Immune disorders
  5. Sleep apnea
  6. Obesity
  7. Leukemia
  8. Dementia
  9. Other problems
40
Q

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

A
  1. Heart defects
  2. Spinal problems
  3. Seizure hx
41
Q

Looking on the inside of a individual with down syndromes teeth can show you if they have:

A

GERD

42
Q

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

A

Child with Down syndrome

43
Q

Down syndrome is a condition or syndrome, not a:

A

Disease

44
Q

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

A

Have ; suffer ; afflicted

45
Q

What word should be used instead of “normal” when describing an individual with Down syndrome:

A

Typical

46
Q

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

A

Chromosomal rearrangements

47
Q

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

A

Copy number ; break up

48
Q

1 in 1000 infants is born with a :

A

Symptomatic chromosomal rearragnement

49
Q

Cri-du-Chat syndrome is caused by ______ and has a _____.

A

Chromosomal rearrangement ; oral manifestation

50
Q

The high pitched cry that resembles a cat sound, is found in individuals with _____ .

A

Cri-du-Chat

51
Q

Cri-du-Chat syndrome is caused by a deletion on:

A

Chromosome 5

52
Q

Prevalence of Cri-du-Chat syndrome:

A

1 in 20-50,000

53
Q

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

A

Cri du Chat syndrome

54
Q

Hypertelorism, low-set ears, micrognathia, moon facies, epicanthal folds, broad nasal bridge and downward-slanting palpebral tissues are all facial feature of:

A

Cri du Chat syndrome

55
Q

In 10% of Cri du Chat Syndrome cases, its inherited by:

A

Unaffected parent

56
Q

What sex is Cri du Chat more prevalent in?

A

Girls (4:3)

57
Q

Single-gene disorders are referred to as:

A

Mendelian disorders

58
Q

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

A

Dominant

59
Q

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

A

Recessive

60
Q

Multi factorial disease may also be referred to as:

A

Polygenic diseases or complex diseases

61
Q

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

A

Multifactorial disease

62
Q

Most of the common disease, from allergies to diabetes and coronary heart disease are:

A

Multifactorial

63
Q

Neural crest lining on either side of the neural crest tube, migrates around and form the:

A

Craniofacial bone and palate

64
Q

Median palatal process is derived from:

A

Medial nasal processes and frontonasal processes

65
Q

The median palatal process forms the:

A

Primary palate

66
Q

_____ is derived from the frontonasal prominence

A

Nasal septum

67
Q

______ are derived from the maxillary process of the first pharyngeal arch

A

Palatal shelves

68
Q

In the basic steps of palatogenesis, growth occurs at _____ weeks, elevation occurs at _____ weeks, and fusion occurs at _____ weeks.

A

7 weeks, 8 weeks, 9 weeks

69
Q

Formation of the secondary plate:

A

Palatogenesis

70
Q

What separates the nasal cavity from the oral cavity?

A

Secondary palate

71
Q

The secondary palate separates:

A

Nasal cavity from the oral cavity

72
Q

The secondary palate is needed for: (5)

A
  1. Swallowing
  2. Taste
  3. Vomiting
  4. Breathing
  5. Speech
73
Q

What is the prevalence of cleft palates?

A

1/1500 births

74
Q

Prevalence of cleft lip + cleft palate

A

1/300-1/2500 births

75
Q

One of the most common birth defects in humans:

A

Cleft lips and cleft palates

76
Q

Cleft lips & palates are a result of failed:

A

Palatogenesis

77
Q

A specific defect in palatogenesis (during weeks 7-10)

A

Cleft palate only

78
Q

A secondary defect for failed lip fusion (weeks 4-7)

A

CP in CL/CP

79
Q

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

A

Non-syndromic disease & syndromic diseases

80
Q

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

A
  1. Alcohol
  2. Phenytoin
  3. Retanoic acid
  4. Radiation
  5. TCDD
81
Q

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

A
  1. Low methionine
  2. Low folic acid
  3. Maternal DM
  4. Hypervit A

Applied Biochem (18 decks)

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