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Clinical Med (Year 2) > Genetic Disorders (Exam 2) > Flashcards

Genetic Disorders (Exam 2) Flashcards

1
Q

What is a genotype?

A

Entire genetic composition

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2
Q

What is a phenotype?

A

Expression of genes

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3
Q

What is a chromosome?

A

Contains DNA

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4
Q

How many pairs of chromosomes does someone have?

A

23 pairs of chromosomes (46 chromosomes)

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5
Q

What is a chromosomal Karyotype?

A

Chromosomal map from a single cell

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6
Q

What is monosomy?

A

When one chromosome of a pair is missing

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7
Q

What is trisomy?

A

presence of an extra chromosome

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8
Q

What is deletion?

A

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

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9
Q

What is translocation?

A

Part of chromosome has detached & reattached itself to another chromosome

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10
Q

What is the pathophysiology of Trisomy 21 - Down syndrome?

A

47XX + 21 or 47XY+21

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11
Q

In regards to Trisomy 21 what is non- disjunction?

A
  • 2 chromosomes don’t separate during mitosis so end up with a 3rd chromosome on karyotype 21
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12
Q

In regards to Trisomy 21 what is translocation?

A

Chromosome stuck to other instead of going to where it should be

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13
Q

In regards to Trisomy 21 what is mosaicism?

A
  • Happens later in development
  • Not all cells have trisomy
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14
Q

As the maternal age (BLANK) the incidence of Down Syndrome (BLANK)

A

As the maternal age increases the incidence of Down Syndrome increases

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15
Q

What is the physical features of Trisomy 21 - Down syndrome?

A
  • Small statue
  • Upward slant of eyes
  • Wide gap b/w toes 1 &2
  • Micrognathia
  • Small oral cavity resulting in protruding tongue
  • Speckling of iris
  • Epicanthal fold of eyes
  • Saddle nose
  • Small ears
  • Short broad hands w/ single palmar crease
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16
Q

What is the neuropathology of Trisomy 21 - Down syndrome?

A
  • Simplicity in convolutional pattern
  • Reduced synaptogenesis
  • Lack/delay of myelination
  • Decreased # of small neurons
  • Structural abnormalities of neurons
  • Increased # neurofibrillary tangles & senile plaques
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17
Q

What is the clinical picture of Trisomy 21 Down syndrome?

A
  • ID
  • Microbrachycephaly
  • Cardiopulmonary abnormalities
  • Developmental delay
  • other medial issues (Seizures, Leukemia, Duodenal atresia/stenosis, senile dementia)
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18
Q

What is the clinical picture of the musculoskeletal for an individual with Trisomy 21 - Down syndrome?

A
  • Hypotonia
  • Muscular variations
  • Foot deformities
  • Hip subluxation/dislocation
  • Patellar instability
  • Scoliosis
  • A/A Instability
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19
Q

What is the clinical picture of the sensory deficits of Trisomy 21- Down syndrome?

A
  • Hearing loss
  • Strabismus (estropia)
  • Cataracts
  • Chronic otitis media
  • Nystagmus
  • Myopia
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20
Q

How is the Trisomy 21 diagnosed in pre/post natal?

A
  • Aminocentesis
  • AFP (Alpha Feto Protein)
  • Observation at birth
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21
Q

What is the medial/ surgical treatment for Down Syndrome?

A
  • No treatment
  • Lots of medical support for compromised systems
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22
Q

What is the pathophysiology and incidence of Turner Syndrome?

A
  • Patho: 45XO
  • Incidence: Female only & no correlation to advanced maternal age
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23
Q

What are some physical features of Turner’s syndrome?

A
  • Webbed neck
  • Cubital valgus
  • Dorsal edema of hands & feet
  • Hypertelorism (wide set of eyes)
  • Epicanthal folds
  • Ptosis
  • Elongated ears
  • Growth retardation
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24
Q

What are some other system issues when a patient has Turner Syndrome?

A
  • Congential heart disease
  • Kidney malfunctions
  • Hearing loss
  • Decreased gustatory & olfactory
  • Deficits in spatial perception & orientation
  • Average intellect in most
  • Sexual infantilism
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25
Q

What are some skeletal abnormalities of turner syndrome?

A
  • Hip dislocation
  • Foot deformities
  • Osteoporosis
  • Idiopathic scoliosis
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26
Q

What is the pathophysiology of the fragile X syndrome?

A

Structural abnormality of X chromosomes

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27
Q

What is the clinical features of a patient with fragile X syndrome?

A
  • Large head/ears/jaw
  • myopic
  • V shaped palate
  • Large testes
  • Active/autistic
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28
Q

What is partial deletion of chromosome? And how is it named?

A
  • Section of a chromosome is missing
  • Often been deleted in replication process during meiosis
  • Named by chromosome # & location of deletion on short or long arm (Q is long arm & P is short arm)
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29
Q

What are the early features of Prader Willi Syndrome?

A
  • Hypotonia
  • Expresionless
  • Weak cry
  • Poor feeding
  • slow weight gain
  • dysmorphic fascial features
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30
Q

What are some late features of Prader Willi Syndrome?

A
  • Improved muscle tone with coordination & motor delays
  • Persistent/compulsive appetite
  • Obesity
  • Hypogonadism
  • Mild/mod ID
  • Maladaptive behaviors
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31
Q

What are autosomal dominant disorders a result of?

A
  • Abnormality or mutation in a single gene
  • Abnormal or mutated gene overrides the normal allele inherited from the other parent
32
Q

What is the clinical pictures of osteogenesis imperfecta?

A
  • Types I-IV
  • Brittle bones
  • Hyper extensible ligaments
  • Blue teeth
  • Skeletal deformities
  • Deafness
  • Small stature
  • Small limbs
33
Q

What is the management of osteogenesis imperfecta?

A

Supportive

34
Q

What is the clinical picture of tuberous sclerosis?

A
  • Seizures
  • Intellectual disabilites
  • Sebaceous adenomas
35
Q

What is the management of Tuberous Sclerosis?

A

Removal of tubers to stop seizures

36
Q

What is the clinical picture of Neurofibromatosis/ von Recklinghausen Disease?

A
  • Café au lait spots
  • Neurofibroma
  • ID
  • Seizures
37
Q

What is the clinical picture of Huntington’s Chorea?

A
  • Movement, thinking & psychiatric disorders
  • Decline in physical, mental & behavioral function
  • Heart disease
38
Q

What movement disorders are involved in a patient with Huntington’s Chorea?

A
  • Involuntary jerking or writhing movements
  • Muscle problems (rigidity or muscle contractions)
  • Slow eye movements, saccades
  • Impaired gait, posture & balance
  • Difficulty with speech and/or swallowing
39
Q

How is Huntington’s Chorea managed?

A
  • Just addressing the symptoms
  • Unable to prevent the physical, cognitive & behavior declines
40
Q

Describe Autosomal Recessive disorder

A
  • Allele inherited from each parent is abnormal
  • Combo of 2 alleles results in disease state
  • Parents do not typically have the specific type of disease
41
Q

What is the clinical picture of Phenylketonuria?

A

Untreated causes:
- mental/growth retardation
- seizures
- Movement disorders

42
Q

How is Phenylketonuria managed?

A

Diet
- Good prognosis too

43
Q

What is the clinical picture of Sickle Cell Anemia?

A
  • Related to anemia & thrombosis/infarction
  • Severe anemia
  • jaundice
  • arthralgia
  • aseptic necrosis of femoral head
  • hemiplegia
  • Cranial nerve palsies
  • Pulmonary & renal dysfunction
44
Q

How is sickle cell anemia managed?

A

Blood transfusion

45
Q

What is the clinical picture of Cystic Fibrosis?

A
  • Affects digestive & respiratory systems
46
Q

How is cystic fibrosis managed?

A
  • Replace enzyme in GI
  • Clear out secretion
47
Q

What is the clinical picture of Fredreich’s Ataxia?

A
  • Ataxic gait
  • Demetria of UE/LE
  • speech distrubances
  • Pes cavus
  • Cardiomyopathies
48
Q

How is Fredreich Ataxia managed?

A

Assistive device

49
Q

What is the clinical picture of Krabbe’s Disease?

A

May appear normal at birth, progressive retardation, paralysis, blindness, deafness, pseudo bulbar palsy
- Fatal generally within 2 years

50
Q

How is Krabbe’s Disease managed?

A
  • Supportive care
51
Q

What is the clinical picture of Tay Sachs?

A
  • Seen at 6 months
  • Loss motor
  • Death usually by 5 years old
52
Q

Describe X-linked recessive inheritance

A
  • Also called sex linked inheritance
  • Only affects males
  • Females are carriers
  • Family history (normal females & affected males)
53
Q

What is the clinical picture of hemophilias?

A
  • Hemarthrosis
  • Hematoma
  • Hematuria
  • Hemorrhages from minor injuries
54
Q

How is hemophilias managed?

A
  • Transfusion
  • Use of blood clotting factors
55
Q

How is Muscular Dystrophy- Dushenne’s diagnosed?

A
  • Increased level of creatine kinase
  • Muscle biopsy
56
Q

What is the clinical picture of muscular dystrophy dushenne?

A
  • Worsening musculoskeltal
  • Trandelenburg
  • Scoliosis
  • muscle wasting
57
Q

How is spinal muscular atrophy diagnosed?

A
  • Serum enzymes
  • EMG
  • Muscle biopsy
58
Q

What types of spinal muscular atrophy have a decreased life expectancy?

A
  • Type I & II
59
Q

What is a “normal” Karyotype?

A

46, XX
or
46,XY

60
Q

True or False: Turner Syndrome is only seen in females

A

True

61
Q

What is the pathophysiology of Prader Willi Syndrome?

A

46XY-15q
or
46XX-15q

62
Q

What is the pathophysiology of Osteogenesis Imperfecta?

A

Deficit in collagen synthesis

63
Q

What is the pathophysiology of Tuberous Sclerosis?

A

Spontaneous mutation related to increased paternal age

64
Q

What is the pathophysiology of Neurofibromatosis/ von Recklinghausen Disease?

A

Spontaneous mutation or family related

65
Q

What is the pathophysiology of Huntington’s Chorea?

A

Progressive breakdown of nerve cells & gross atrophy of corpus striatum, neuronal degeneration in caudate nucleus/ putamen/deep nuclei & frontal cortex

66
Q

What is Charcot-Marie- Tooth Disease?

A

Hereditary motor & sensory neuropathy or perineal muscular atrophy

67
Q

What is the pathophysiology of phenylketonuria?

A

Absence of phenylalanine hydroxylase prevents conversion of phenylalanine to tyrosine

68
Q

What is the pathophysiology of sickle cell anemia?

A

Chronic hemolytic anemia, sickle shaped RBCs, inheritance of HbS

69
Q

What is the pathophysiology of Cystic Fibrosis?

A

Effects exocrine glands & sweat glands

70
Q

What is the pathophysiology of Fredreich’s Ataxia?

A

Degeneration of posterior spinal roots, posterior spinal cord, cerebellum, dorsal & ventral degeneration of spinocerebellar tracts & lateral corticospinal tracts

71
Q

What is the pathophysiology of Tay Sachs Disease?

A
  • genetic mutation on chromosome 15q
  • inability to produce hexosaminidase
  • CNS degeneration
72
Q

What is the pathophysiology of hemophilias?

A

Bleeding disorders due to inherited deficiencies or abnormalities of coagulation factors

73
Q

What is the pathophysiology of Muscular Dystrophy - Duchenne’s?

A
  • Dysfunctional dystrophin gene, dystrophin protein not functioning properly
  • Muscles can compensate for a while but over time the abnormal dystrophin leads to damage to muscle cells.. leads to infiltration of connective tissue/fat into the muscle
74
Q

What is pseudo hypertrophy?

A

Presentation of large gastrocnemius due to infiltration of fat & connective tissue

75
Q

What is the pathophysiology of spinal muscular atrophy?

A

-Disease of anterior horn cells
- Accelerated rate of neuronal cell apoptosis

Clinical Med (Year 2) (17 decks)

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