Brainscape's Knowledge GenomeTM

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


See full index

Biochemistry (Cole) > Lecture 36 How do mutations affect health and crainofacial development? > Flashcards

Lecture 36 How do mutations affect health and crainofacial development? Flashcards

1
Q

how many mutations is the average child born with that were not present in parents?

A

100-200

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

How many infants are 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
3
Q

What are some examples of chromosome disorders?

A
  • aneuploidy
  • rearrangements/translocations
  • deletions
  • insertions
  • duplications
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is aneuploidy?

A
  • an abberation in chromosome number caused by segregation of chromosomes during mitosis or meiosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

how many infants are born with aneuploidy?

A
  • 1 in 400
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Where do most cases of aneuploidy originate in?

A
  • female meiosis I and risk rises with maternal age
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Examples of aneuploidy

A
  • 9p trisomy
  • down syndrome
  • edwards syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

key characteristics of down syndrome?

A
  • upslanting palpebral fissure
  • low set small folded ears
  • short neck
  • flattened nasal bridge
  • brushfield spots
  • epicanthal fold
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the most common chromosomal condition?

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

What is down syndrome?

A
  • full or partial extra copy of chromosome 21
  • 1 in 700 babies in the US
    (6000 babies a year)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Most of the down syndrome cases can be classified as?

A
  • nondisjunction (95% of cases)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the least common form of down syndrome?

A
  • Mosaicism (1%)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What form of down snydrome is classified as a full or partial copy of chromosome 21 attaching to another chromosome (usually chromosome 14)

A
  • Translocation (4%)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the main risk factor that has been linked to having a baby with down syndrome?

A
  • Maternal age

results from nondisjunction or mosaicism

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

T/F most of the children with down syndrome come from mothers over the age of 35?

A
  • False

- due to higher birth rates in younger women 80% of children with down syndrome are born to women under 35 years of age

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

What percentage of cases of down syndrome are traced to the father?

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

Is heredity a factor in trisomy 21 (nondisjunction) and mosaicism?

A
  • no
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

non craniofacial features of individuals with down syndrome

A
  • low muscle tone
  • small stature
  • cognitive delay (very mild to severe)
  • transverse palmar crease
    (these traits vary)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is a transverse palmar crease?

A
  • a single deep crease across the center of the palm
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How many adults with down syndrome reach age 60?

A
  • 80%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the main thing to be concerned about with down syndrome patients?

A
  • heart defects
  • spinal problems
    (always ask about heart problems)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What percent of children with down syndrome are born with some type of congenital heart defect?

A
  • 50%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Spinal problems in down syndrome patients

A
  • some people with down syndrome may have a misalignment of the top tow vertebrae in the neck
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is atlantoaxial instablility?

A
  • misalignment of the top two vertebrae in the neck
  • this condition puts them at risk of serious injury to the spinal cord from over extension of the neck (need extra support in chair)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Other considerations for treatment of down syndrome individuals?

A
  • GI defects
  • immune disorders
  • sleep apnea
  • obesity
  • leukemia
  • demential
  • other problems
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

How should you describe a child with down syndrome?

A
  • A child with down syndrome NOT (a downs child)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Is down syndrome a disease?

A
  • no it is a condition or syndrome
28
Q

Do people suffer from down syndrome?

A
  • no they have it

- they are not afflicted by it

29
Q

What word should you use instead of retardation?

A
  • cognitive disability or intellectual disability
30
Q

Is saying Downs appropriate?

A
  • no

- an apostrophe denotes ownership

31
Q

What are chromosomal rearrangements caused by?

A
  • chromosome breakage or by recombination between mispaired chromosomes during meiosis
32
Q

what chromosomal rearrangements are likely to cause disease?

A
  • rearrangements that change the copy number of genes or that break up an important gene
33
Q

How many infants are born with a symptomatic chromosomal rerrangement?

A
  • 1 in 1000
34
Q

Why is cri du chat chat called “cats cry”

A
  • infants with this condition often have a high-pitched cry that sounds like that of a cat
35
Q

What are some features of cri du chat syndrome?

A
  • intellectual disability and delayed development
  • small head size (microcephaly)
  • Low birth weight
  • weak muscle tone (hypotonia)
  • transverse palmar crease
  • some have heart defects
36
Q

Cranial facial features of cri du chat?

A
  • widely set eyes (hypertelorism)
  • Low set ears
  • small jaw (micrognathia)
  • rounded face (moon facies)
  • epicanthal folds
  • broad nasal bridge
  • downward- slanting palpebral fissures
37
Q

What chromosome is associated with cri du chat?

A
  • chromosome 5
38
Q

Can cri du chat be inherited from unaffected parent?

A
  • yes

- 10 % of cases

39
Q

Do females or males have cri du chat more commonly?

A
  • females

- 4:3 ratio

40
Q

Symptoms of cri du chat

A
  • cognitive disfunction
  • facial defects
  • small head
  • low birth weight
41
Q

How is cri du chat diagnoses?

A
  • genetic testing
42
Q

What is a dominant single gene disorder?

A
  • expressed in heterozygotes who carry a single copy of the mutation
  • severe dominant diseases are often caused by new mutation
43
Q

What is a recessive single gene disorder?

A
  • expressed only in homozygotes who have the mutation in both copies of the gene
44
Q

Single gene disorders aka

A

mendelian disorders

45
Q

Multifactorial diseases aka

A

polygenic diseases or complex diseases

46
Q

What are multifactorial diseases caused by?

A
  • caused not by a single major mutation but by interacting genetic and environmental risk factors
47
Q

What is the most common diease?

A
  • multifactorial

from allergies to diabetes and coronary heart disease, are multifactorial

48
Q

What week is the growth phase of palatogenesis?

A
  • week 7
49
Q

What happens in the growth phase of palatogenesis?

A
  • median palatal process (derived from medial nasal processes and frontonasal process) forms the primary palate
50
Q

When is the elevation phase of palatogenesis?

A
  • week 8
51
Q

What happens in the elevation phase?

A
  • nasal septum- derived from the frontonasal prominence

- palatal shelves- derived from the maxillary process of the first pharyngeal arch

52
Q

When is the fusion phase of palatogensis?

A
  • 9 weeks

- fusion forms secondary palate

53
Q

What does the secondary palate do?

A
  • separates the nasal cavity from the oral cavity

-

54
Q

what is the secondary palate needed for?

A
  • swallowing
  • taste
  • vomiting
  • breathing
  • speech
55
Q

Cleft palate is the result of:

A
  • failed palatogenesis
  • (failure in PS growth)
  • (failure PS elevation)
  • (failure in PS fusion)
56
Q

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

A
  • cleft palate
57
Q

Is the etiology of cleft palate only the same as that of cleft lip with cleft palate?

A
  • no they are different
58
Q

Cleft palate only

A
  • is a specific defect in palatogenesis (weeks 7-10)
59
Q

Cleft palate in Cleft lip/cleft palate

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

- mom might know shes pregnant

60
Q

How many cases are syndromic cleft palate?

A
  • 30% of cases (cleft palate a phenotype of a know syndrome)
61
Q

How many cases are non-syndromic cleft palate?

A
  • 70% of cases (not associated with a know syndrome)
62
Q

What are environmental causes of cleft palate?

A
  • alcohol, phenytoin, retinoic acid, radiation, TCDD
63
Q

What are nutritional/metabolic causes of cleft palate?

A
  • low methionine, low folic acid, maternal DM, hypervit A
64
Q

Genetic causes of cleft palate

A
  • 350 + mendelian disorders. chromosomal aberrations?
65
Q

Is the pathogenesis of clef palate fully understood?

A
  • nope
66
Q

Does current prenatal screening detect cleft palate?

A
  • no

- screening occurs after it has happened

67
Q

What is a problem caused by therapy in cleft palate patients?

A
  • defective maxillary growth (due to scarring)

Biochemistry (Cole) (25 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions