Brainscape's Knowledge GenomeTM

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


See full index

D1 Fall - Biochem > 10/25: How do Mutations Affect Health and Craniofacial... > Flashcards

10/25: How do Mutations Affect Health and Craniofacial... Flashcards

1
Q

What are mutations an important cause of?

A

Poor health

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

What are chromosome disorders?

A

Aneuploidy, rearrangements/translocations, deletions, insertions, duplications

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

What are single gene disorders?

A

Dominant, recessive, codominant

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

What are multifactorial or complex genetic diseases?

A

Multiple genes, gene-environment

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

What is an abberration in chromosome number caused by faulty segregation of chromosomes during mitosis or meiosis?

A

Aneuploidy

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

When do most cases of aneuploidy originate in?

A

Female meiosis I and the risk rises with maternal age

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

What are examples of aneuploidy with oral manifestations?

A

Upslanting palpebral fissures
Low-set, small, folded ears
Short neck
Epicanthal fold
Flattened nasal bridge
Brushfield spots

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

What is down syndorme (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
9
Q

What is the most common chromosomal condition?

A

Downsyndrome (trisomy 21)

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

What is the most to least common form of down syndrome?

A

Nondisjunction (most)
Translocation
Mosaicism (least)

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

What is translocation of down syndrome?

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
12
Q

What is the 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
13
Q

80% of children with down syndrome are born to women under _______ years of age

A

35 years
5% have been traced to the father

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

What 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
15
Q

In 1/3 of cases of down syndrome resulting from tanslocation there is a ____________ component

A

Hereditary

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

What are symptoms of down syndrome?

A

Low muscle tone
Small stature
Cognitive delay
Transverse palmar crease

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

What should you ask a patient with down syndrome prior to leaning them back?

A

Heart defects
Spinal problems
Seizures

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

What should you know about a patient with down syndrome?

A

Heartburn
Sleep apnea
Endocrine problems
Dental problems

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

People with down sydrome should always be referred to as

A

people first

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

People _____ down syndrome they do not __________

A

Have; suffer from it

21
Q

______ is preferred over _______

A

Typical; normal

22
Q

___________ has replaced mental retardation

A

Intellectual disability or cognitive disability

23
Q

What is chromosomal rearrangements caused by?

A

Chromosome breakage or recombination between mispaired chromosomes during meiosis

24
Q

What is cat’s cry

A

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

25
Q

What is cri du chat syndrome?

A

partial loss of chromosome 5

26
Q

What are features of cri du chat?

A

Intellectual disability and delayed development
Small head size
Low birth weight
Weak muscle tone
Transverse palmar crease
Some heart defects

27
Q

What are facial features of cri du chat?

A

Widely set eyes
low set ears
small jaw
rounded face
epicanthal folds
broad nasal bridge

28
Q

What are single-gene disorders also known as

A

mendelian disorders

29
Q

What are single-gene disorders?

A

Mutations in a single gene

30
Q

What is a dominant mutation?

A

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

31
Q

What are recessive mutations?

A

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

32
Q

What are multifactorial diseases?

A

Polygenic diseases or complex diseases

33
Q

What are multifactorial diseases caused by?

A

Not a single mutation but by a interacting genetic and environmental risk factors

34
Q

What does the median palatal process (derived from medial nasal processes and frontonasal process) form?

A

Primary palate

35
Q

What is derived from the frontonasal prominence?

A

Nasal septum

36
Q

What is derived from the maxillary process of the first pharyngeal arch?

A

Palatal shelves

37
Q

What separates the nasal cavity from the oral cavity?

A

Secondary palate

38
Q

What is the secondary palate needed for?

A

Swallowing
taste
vomiting
breathing
speech

39
Q

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

A

Cleft palate

40
Q

What is a cleft palate result from?

A

Failed palatogenesis
- failure in PS growth
- failure in PS elevation
- failure in PS fusion

41
Q

What etiology is different?

A

CPO is different than that of cleft lip with cleft palate (CL/CP)

42
Q

What is CPO a specific defect in?

A

Palatogenesis (weeks 7-10)

43
Q

CP in CL/CP is a ________ defect for a failed lip fusion

A

Secondary defect (weeks 4-7)

44
Q

What is a more frequent case?

A

Non syndromic cleft palate (not associated with a known syndrome)

45
Q

What are some identified causes of cleft palate?

A

Environmental
- alcoholic
- phenytion
- retinoic acid
- radiation
Nutritional/metabolic
- low methionine
- low folic acid
- maternal DM
Genetic
- 350+ mendelian disorders
- chromosomal aberrations

46
Q

What does a poor job of detecting facial anomolies?

A

Prenatal screening

47
Q

What is an early intrauterine event?

A

Cleft palate, screening occurs 18-22 weeks

48
Q

Describe the etiology of cleft palate

A

Multifactorial (still poorly known)
Gene - environment interactions
Genetic susceptibility
Environmental toxins
Nutrition
Life style (smoking, alcohol)

D1 Fall - Biochem (29 decks)

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