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Clin Med 2 > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Genotype is..

A

entire genetic composition

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2
Q

Phenotype is…

A

expression of genes

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3
Q

Chromosome contains

A

DNA

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4
Q

DNA is made up of

A

nucleotide bases

Cytosine, thymine, adenine, and Guaninine

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5
Q

How many pairs of chromosomes; how many total?

A

23 pairs; 46 total

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6
Q

True/False

There are 22 pairs of autosomal chromosomes?

A

True

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7
Q

True/False

There is 1 pair of sex chromosomes?

A

True dat

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8
Q

What does this mean?

47, xx, +21

A 
47= extra chromosome
xx= female
\+21= extra chromosome is on #21
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9
Q

What does this mean?

46, xy, -10q

A 
46= correct number of chromosome
xy= male
-10q= chromosome #10 is missing its q arm
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10
Q

Monosomy means

A

When one chromosome of a pair is missing

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11
Q

Trisomy means

A

Presence of an extra chromosome

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12
Q

Deletion means

A

part of the chromosome is missing; part of the genetic code has been omitted

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13
Q

Translocation means

A

part of a chromosome has been detached and reattached its self to another chromosome

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14
Q

Trisomy 21

47xx+21 0r 47xy+21

A

Down syndrome

most common trisomy

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15
Q

Trisomy 18

47xy+18 OR 47xx+18

A

Edwards Sydrome

2nd most common trisomy with more serious organic malfunctions

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16
Q

Trisomy 13

47xy+13 OR 47xx+18

A

Patau syndrome

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17
Q

True/False

Does the risk of incident increase with age?

A

Does a bear shit in the woods?….yes

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18
Q

Down syndrome common physical features are..

A

upward slanted eyes, small oral cavity resulting in a protruding tongue (macroglossia), Epicanthal fold at the eyes, saddle nose, small ears

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19
Q

Common instability associated with down syndrome?

A

AA instability

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20
Q

clinical picture of Down syndrome?

A

1) Simplicity in convolutional pattern ( not so deep gyri and sulci)
2) reduced synaptogenesis
3) lack/delay of myelination
4) decreased # of small neurons
5) Structural abnormalities of neurons
6) increased # neurofibrillary tangles and senile plaques
7) MR
8) Microbrachyechaly ( flat skull A/P and wider M/L)
9) Cardiopulm abnormalities (valve issues)

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21
Q

Down syndrome, musculoskeletal clinical picture

A

1) hypotonia (low resistance to stretch, hang on Ligamentous structures)
2) Foot deformities
3) Hip sublux/dislocation
4) patellar instability
5) Scoliosis
6) AA instability

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22
Q

Down syndrome, Sensory deficits

A

1) Hearing loss
2) Strabismus (esotropia= eye turned out)
3) Cataracts
4) Chronic otitis media (ear infections)
5) Nystagmus
6) Myopia (near sighted)

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23
Q

AFP

A

Alpafitoprotein

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24
Q

Is Edward syndrome related to maternal age?

A

yeppers

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25
Q

what percentage of children survive past 1 year?

A

10%

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26
Q

true/false

seen more in females then males 3:1

A

the truth

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27
Q

Clinical picture of Edwards Syndrome

A

1) LBW, small stature
2) CV/GI/urogenital/skeletal malformations
3) Long narrow skull with misshapen ears
4) Tone abnormalities
5) profound MR
6) Leads to poor cerebellar function

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28
Q

true/false

Is Patau syndrome correlated with advanced maternal age?

A

dats da truth

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29
Q

Clinical picture of Patau syndrome

A

1) CNS/CV/MS/urogenital
2) severe-profound MR
3) An/microopthalmia - no eyes/small eyes

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30
Q

What percentage of babies survive past 3 years?

A

5%

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31
Q

Sec chromosome disorders are characterized by…

A

absent, extra, or damaged chromosomes

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32
Q

45XO is also known as

A

Turner Syndrome

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33
Q

Turner syndrome is only found in which Sex?

A

Females

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34
Q

True/False

Turner syndrome is the most common cause of spontaneous abortions

A

True

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35
Q

True/False

Turner Syndrome is correlated to advanced maternal age.

A

False

36
Q

Physical features of Turner Syndrome

A

1) Webbed neck
2) Cubital valgus
3) dorsal edema of hands and feet
4) Hypertelorism (eyes wide set)
5) Epicantal folds
6) Ptosis
7) elongated ears
8) Growth retardation

37
Q

Comorbidity w/ Turner Syndrome

A

1) Congenital heart disease
2) Kidney infection
3) Hearing loss
4) Decreased gustatory and olfactory
5) Defects in spatial perception and orientation
6) Average intellect– not cognitive impaired
7) Sexual infantilism

38
Q

Skeletal abnormalities associated w/ Turner Syndrome

A

1) hip dislocation
2) Foot deformities
3) osteoporosis
4) Idiopathic scoliosis

39
Q

47XXY is also known as

A

Klinefelter Syndrome

40
Q

Klinefelter Syndrome is characterized

A

An extra X chromosome in males

41
Q

Clinical picture of Klinefelter Sundrome

A

1) Testes fail to enlarge
2) Gynecomastia– breast development
3) Normal IQ (unlike Connor)
4) Sterility (probs like Connor)

42
Q

Klinefelter Syndrome in severe karyotypes

A

1) severe MR
2) hypertelorism
3) Strabismus
4) cleft palate
5) radioulnar stenosis
6) genu valgus
7) malformed cervical vertebrae
8) pes planus

43
Q

Fragile X syndrome is characterized by:

A

abnormalities w/ the X chromosome functioning; not missing parts, just parts don’t work right (like ehlers)

44
Q

Clinical features of Fragile X syndrome are:

A

1) large head/ears/jaw
2) myopic
3) v-shaped palate
4) large testes
5) active (ADHD)/autistic

45
Q

True/False

There is no intervention for Fragile X syndrome

A

true

46
Q

True/False

Fragile X syndrome is only found in males

A

Truth

47
Q

Partial deletion of a chromosome is…

A

where a section of the chromosome is missing

48
Q

When is it usually deleted?

A

Replication process during meiosis

49
Q

Which arm is the Q arm?

A

The long arm of the Chromosome

50
Q

Which arm is the P arm?

A

The short arm of the chromosome

51
Q

46XY-4p OR 46XX-4p is also known as?

A

Wolf-Hirschhorn syndrome

52
Q

Which arm is effected by Wolf-Hirschhorn Syndrome?

A

the short arm of chromosome 4 (-4p)

53
Q

True/False

Wolf-Hirschhorn is very rare, only 120 cases since 1992?

A

True

54
Q

Clinical features of Wolf-Hirschhorn syndrome?

A

1) severe psychomotor and growth retardation
2) hypotonicity
3) microcephaly
4) hypertelorism
5) cleft lip/palate
6) heart malformation
7) hip dislocation
8) club feet

55
Q

46XY-5p OR 46XX-5p is also known as?

A

Cri-du-chat syndrome; cry of the cat syndrome due to the high pitched cry at birth

56
Q

Which arm is effected by Cri-du-chat syndrome?

A

the short arm of the 5th chromosome (-5p)

57
Q

Clinical features of Cri-du-chat syndrome

A

1) high pitched cry
2) microcephaly
3) growth/mental retardation
4) hypertolerism
5) strabismus
6) tone abnormalities
7) scoliosis
8) hip dislocation
9) club feet
10) respiratory/feeding problems

58
Q

46XY-15q OR 46XX-15q is also known as?

A

Prader Willi Syndrome

59
Q

synophrys looks like?

A

unibrow

60
Q

Early Clinical features of Prader Willi Syndrome?

A

1) hypotonia
2) expressionless face
3) waek cry
4) poor feeding
5) slow weight gain*
6) dysmorphic facial features

61
Q

Late Clinical features of Prader Willi Syndrome?

A

1) improved mm tone w/ coordination and motor delays
2) persistent/compulsive appetite*
3) obesity
4) hypogonadism
5) mid/mod MR
6) maladaptive behaviors

62
Q

Prader Willi Syndrome is associated with?

A

Lack of development of secondary sex characteristics and FTT

63
Q

Autosomal Dominant Disorders results from?

A

abnormality or mutation in a single gene

64
Q

True/False

Abnormal or mutated genes override the normal allele inherited from the other parent.

A

True

65
Q

Pathophysiology of Osteogenesis Imperfecta

A

deficits in collagen synthesis

66
Q

True/False

The children can be born with Fx

A

true

67
Q

Clinical picture of Osteogenesis imperfecta

A

1) types I-IV
2) brittle bones
3) hyperextensible ligaments
4) blue teeth
5) skeletal deformities
6) deafness
7) Small stature/limbs

68
Q

Pathophysiology of Tuberous Sclerosis

A

Spontaneous mutation related to increased paternal age

69
Q

Clinical picture of Tuberous Sclerosis

A

Triad of symptoms:

1) seizures
2) MR
3) sebaceous adenomas

70
Q

sebaceous adenomas are…

A

a cutaneous condition characterized by a slow-growing tumor usually presenting as a pink, flesh-colored, or yellow papule or nodule.

71
Q

Pathophysiology of von Recklinghausen Disease (neurofibromitosis)

A

spontaneous mutation or family related

72
Q

Clinical picture of von Recklinghausen Disease

A

cafe au lait spots, neurofibroma, MR, seizures

73
Q

Pathophysiology of Huntington’s Chorea

A

Gross atrophy of corpus striatum, neuronal degeneration in caudate nucleus/putamen/deep nuclei and frontal cortex.

74
Q

Clinical picture of Huntington’s Chorea

A

Choreic movements, variable progression and regression; involuntary and uncontrolled movements

75
Q

True/False

There is a cognitive decline as the disease progresses

A

True

76
Q

Huntington’s Chorea develops

A

later in life 30s,40s,50s

77
Q

Pathophysiology of Charcot-Marie-Tooth disease

A

Hereditary motor and sensory neuropathy or peroneal muscular atrophy

78
Q

Clinical picture of Charcot-Marie-Tooth disease

A

Pes cavus
hammer toe
foot drop
hip/knee flex w/gait to compinsate

79
Q

What can be done to CMT-2

A

can strengthen and lengthen but cant reverse damage

80
Q

What is an autosomal recessive disorder?

A

allele inherited from each parent is abnormal. The combo of the 2 alleles results in the disorder.

81
Q

Do the parents need to have the disorder, in an autosomal recessive disease?

A

Negative ghost rider

82
Q

Pathophysiology of Hurler Syndrome

A

error in metabolism

83
Q

Clinical picture for Hurler Syndrome

A

appear normal at birth w/ symptoms progressing over 1-3 y/o. Seeing:

1) facial deformities
2) mental and physical deterioration
3) early death secondary to cardiac pathology.

84
Q

Management of Hurler Syndrome

A

no medical management, just supportive

85
Q

Pathophysiology of Phenylketonuria (PKU)

A

Absence of phenylalanine hydroxylase prevents conversion of phenylalanine to tyrosine.

86
Q

Clinical picture of Phenylketonuria (PKU)

A

untreated causes MR/GR, seizures and movement disorders

Clin Med 2 (5 decks)

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