Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Applied Biochemistry > How do Mutations Affect Health and Craniofacial Development > Flashcards

How do Mutations Affect Health and Craniofacial Development Flashcards

1
Q

Mutations are an important

cause of

A

poor health

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

100-200

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

– in – infants is born with a diagnosable
genetic condition that can be attributed to a
single major mutation

A

1 in 50

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

types of genetic diseases (3)

A

chromosome disorders
single gene disorders
multifactorial or complex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Chromosome Disorders (5)

A

Aneuploidy, Rearrangements/Translocations, Deletions,

Insertions, Duplications

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Single Gene Disorders (3)

A

Dominant, Recessive, Codominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Multifactorial or Complex (2)

A

Multiple genes, gene-environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

aneuploidy

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

1 in 400 infants is born with —

A

aneuploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Most cases of aneuploidy originate in female

meiosis I and the risk rises with — —

A

maternal age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

example of aneuploidy with oral manifestations

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Down syndrome
1866
1959
2000

A

• 1866 - John Langdon Down, an English
physician, published an accurate description of
a person with Down syndrome
• 1959 - Jérôme Lejeune identified Down
syndrome as a chromosomal condition
• 2000 - an international team of scientists
successfully identified and catalogued each of
the approximately 329 genes on chromosome
21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Down syndrome (trisomy 21)

A

full or partial extra copy of chromosome 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

how many babies in the US are born with downs syndrome

A

1 in 700 babies in the US

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

about — per year

A

6000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

most common chromosomal condition

A

Down syndrome (trisomy 21)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Nondisjunction occurs in –% of down syndrome cases

A

> 95%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Mosaicism occurs in ~–% of Down syndrome cases, least common form

A

1%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Translocation occurs in ~–% of cases

A

4%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

translocation is

A

full or partial copy of chromosome 21 attaches to

another chromosome, usually chromosome 14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

Maternal age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under – years of age

A

35

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

5% of the cases have been traced to the —

A

father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

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

A

Heredity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

However, in one-third of cases of Down syndrome resulting from
translocation there is a hereditary component – accounting for
about

A

1% of all cases of Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Down syndrome symptoms

A

• Low muscle tone,
• Small stature,
• Cognitive delay (very mild to severe), and
• Transverse palmar crease
• a single deep crease across the center of the palm
• each person with Down syndrome is a unique
individual and may possess these
characteristics to different degrees, or not at all
• 80% of adults with Down syndrome reach age
60, and many live even longer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

About half the children with Down syndrome are born with some type of congenital
— —. These heart problems can be life-threatening and may require surgery in early
infancy.

A

heart defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

— —: Some people with Down syndrome may have a misalignment of the top two
vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to
the spinal cord from overextension of the neck

A

spinal problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

— —: GI abnormalities occur in some children with Down syndrome and
may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing
digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease,
may be increased.

A

Gastrointestinal (GI) defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

— —. Because of abnormalities in their immune systems, people with Down
syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and
infectious diseases, such as pneumonia.

A

immune disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

— —. Because of soft tissue and skeletal changes that lead to the obstruction of their
airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.

A

Sleep apnea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

—. People with Down syndrome have a greater tendency to be obese compared with the
general population.

A

Obesity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

—. Young children with Down syndrome have an increased risk

A

Leukemia

34
Q

People with Down syndrome have a greatly increased risk of —. signs and
symptoms may begin around age 50. Having Down syndrome also increases the risk of
developing Alzheimer’s disease.

A

dementia

35
Q

Down syndrome may also be associated with other health conditions, including
(6)

A

endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems

36
Q

People with Down syndrome should always be referred to as — first

A

v

37
Q

Instead of “a Down syndrome child,” it should be “—.” Also
avoid “Down’s child” and describing the condition as “Down’s,” as in, “He has Down’s.”

A

a child with Down syndrome

38
Q

Down syndrome is a (2), not a disease.

A

condition or a syndrome

39
Q

People “—” Down syndrome, they do not “suffer from” it and are not “afflicted by” it.

A

have

40
Q

Typically developing” or “—” is preferred over “normal.”

A

typical

41
Q

what has replaced “mental retardation” as the

appropriate term

A

“Intellectual disability” or “cognitive disability”

42
Q

— strongly condemns the use of the word “retarded” in any derogatory context.
Using this word is hurtful and suggests that people with disabilities are not competent.

A

NDSS

43
Q

Down vs. Down’s

A

down not downs

44
Q

what causes chromosomal rearrangements

A

by chromosome breakage or by recombination between mispaired chromosomes during meiosis

45
Q

Only chromosomal rearrangements that change the — or that break up an important gene are likely to cause disease

A

copy number of genes

46
Q

1 in 1000 infants is born with a — chromosomal rearrangement

A

symptomatic

47
Q

examples with oral manifestations

A

cri-du-chat syndrome

48
Q

Cri du chat syndrome is known as

A

Cat’s cry

49
Q

cat’s cry

A

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

50
Q

Cri du chat syndrome affects

A

1 in 20-50,000 newborns

51
Q

symptoms of Cri du chat syndrome (6)

A 
• Intellectual disability and 
delayed development
• Small head size (microcephaly)
• Low birth weight
• Weak muscle tone (hypotonia)
• Transverse palmar crease
• Some have heart defects
52
Q

Cri du chat syndrome facial features

A 
• Widely set eyes (hypertelorism)
• Low-set ears
• Small jaw (micrognathia)
• Rounded face (moon facies)
• epicanthal folds, 
• broad nasal bridge, 
• downward-slanting palpebral 
fissures
53
Q

single gene disorders aka

A

mendelian disorders

54
Q

single gene disorders are mutations in a

A

single gene

55
Q

expressed in heterozygotes, who carry

a single copy of the mutation

A

dominant

56
Q

Severe dominant diseases are often caused by a

A

new

mutation

57
Q

expressed only in homozygotes, who

have the mutation in both copies of the gene

A

recessive

58
Q

multifactorial diseases aka

A

polygenic diseases or complex diseases

59
Q

multifactorial diseases are caused not by a single major mutation but by (2)

A

interacting genetic and environmental risk

factors

60
Q

Most of the common diseases, from (3), are

multifactorial

A

allergies to

diabetes and coronary heart disease

61
Q

Median palatal process
(derived from medial nasal
processes and frontonasal
process) - forms the — —

A

primary

palate

62
Q

— — - derived
from the frontonasal
prominence

A

Nasal Septum

63
Q

— — - derived
from the maxillary process
of the first pharyngeal arch

A

Palatal shelves

64
Q

Secondary palate separates the

A

nasal cavity from the oral cavity

65
Q

what is the secondary palate needed for? (5)

A 
swallowing (feeding)
taste
vomitting
breathing 
speech
66
Q
  • – of CPO is different than that of Cleft Lip with Cleft Palate (CL/CP)
  • CPO is a specific defect in palatogenesis (weeks 7-10)
  • CP in CL/CP is a secondary defect for a failed lip fusion (weeks 4-7)
A

Etiology

67
Q

Syndromic cleft palate ~ —% of cases (Cleft palate a phenotype of a known
syndrome)

A

30

68
Q

Non-syndromic cleft palate – —% of cases (not associated with a known
syndrome)

A

70

69
Q

identified causes of cleft palate (3)

A

environmental
nutritional/metabolic
genetic

70
Q

Environmental

A

alcohol, phenytoin, retinoic acid, radiation (X-rays),

TCDD…

71
Q

Nutritional / metabolic

A

low methionine, low folic acid, maternal DM,

hypervit. A

72
Q

Genetic

A

350+ Mendelian disorders, chromosomal

aberrations

73
Q

— is not fully understood

A

Pathogenesis

74
Q

cleft lip and palate is not just an interesting biological problem, or just an aesthetic handicap, but also (7)

A 
● family: shock, guilt, anxiety, depression
● babies: failure of suckling, later eating 
problems
● dental defects, malocclusion
● speech difficulties
● infectious complications, hearing 
impairment
● multiple surgery and hospital care
● psychological traumatization
75
Q

Current prenatal screening does a poor job of detecting — —

A

facial anomalies

76
Q

Cleft palate is a very early
— event, screening
occurs 18-22 weeks

A

intrauterine

77
Q

(2) do
not exist to easily detect a cleft
palate

A

Technology and resources

78
Q

Etiology of cleft palate is multifactorial
(and still poorly known):
(5)

A 
•Gene - Environment 
interactions
•Genetic susceptibility
•Environmental toxins
•Nutrition
•Life style (smoking, 
alcohol etc)
79
Q

A problem caused by the therapy-

A

defective maxillary growth

80
Q

A substantial amount of knowledge about the
(2) of cleft palate has been
accumulated

A

developmental biology of palate and the

etiopathogenesis

81
Q

Challenges:

A

• Lifestyle and environmental risk factors
• Gene - environment interactions (still largely an
unknown variable)
• A number of molecules expressed in the palate
during fusion is humbling
• We know many of them - however, we know
very little about their regulation and how
different signaling pathway intersect and
converge

Applied Biochemistry (52 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions