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Applied Biochemistry > How Do Mutations Affect Health & Craniofacial Decelopment (Exam IV) > Flashcards

How Do Mutations Affect Health & Craniofacial Decelopment (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 in 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

Aneuploidy, rearrangements/translocations, deletions, insertions & duplications

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4
Q

Single gene disorders include:

A

Dominant, recessive & codominant

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5
Q

Multifactorial or complex genetic disease occur due to:

A

Multiple genes or gene-environment

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6
Q

What are the three types of genetic diseases:

A

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

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7
Q

An aberration in chromosome number caused by fault 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 I

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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 manifestation of Aneuploidy

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13
Q

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

A

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

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14
Q

Down syndrome is also called:

A

Trisomy 21

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15
Q

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
(Around 6000 babies per year)

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

A

Mosaicism

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24
Q

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

A

Attaching to another chromosome

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25
Q

Most common chromosome for chromosome 21 to attach to during translocation

A

Chromosome 14

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26
Q

The only factor that has been linked to having an increased change of 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 babies 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) & 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 (around 1% of all cases)

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31
Q

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

A

Low muscle
Small stature

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32
Q

Cognitive delay in a 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% of adults with Down syndrome reach the agree of _____ & may even live longer

A

60

35
Q

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

A

Some type of congenital heart defect

36
Q

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

A

Atlantoaxial instability

37
Q

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

A

Atlantoaxial instability

38
Q

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

A

Are at a greater risk of obstructive sleep apnea

39
Q

Individuals with Down syndrome have a greater 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 history

41
Q

Looking on the inside of an individual with down syndrome’s teeth can reveal 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
Affiliated

45
Q

What word should you use 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 are born with a:

A

Symptomatic chromosomal rearrangement

49
Q

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

51
Q

Cri due chat syndrome is caused by a deletion on:

A

Chromosome 5

52
Q

Prevalence of Cri due chat syndrome:

A

1 in 20-50,000

53
Q

Intellectual disability & delayed development, microcephalic, low birth weight, hypotonia, transverse palmar crease & 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 & downward-slanting palpebral fissures are all facial features of:

A

Cri du chat syndrome

55
Q

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

A

Unaffected parents

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

Multifactorial diseases may also be referred to as:

A

Polygenic or complex diseases

61
Q

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

A

Multifactorial diseases

62
Q

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

A

Multifactorial

63
Q

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

A

Craniofacial bones & palate

64
Q

Median palatal process is derived from:

A

Medial nasal processes & frontal nasal processes

65
Q

The median palatal process forms the:

A

Primary palate

66
Q

Derived from the frontonasal prominence

A

Nasal septum

67
Q

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, & fusion occurs at _____ weeks

A

7 weeks
8 weeks
9 weeks

69
Q

Formation of the secondary plate

A

Palatogenesis

70
Q

Separates the nasal cavity from the oral cavity

A

Secondary palate

71
Q

The secondary palate separates the:

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

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 & 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 of pregnancy

A

Cleft palate only

78
Q

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

A

CP in CL/CP

79
Q

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

A

Non-syndromic cleft palate
Syndromic cleft palate

80
Q

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

A

Alcohol
Phenytoin
Retinoic acid
Radiation
TCDD

81
Q

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

A

Low methionine
Low folic acid
Maternal DM
Hypervit. A

Applied Biochemistry (18 decks)

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