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

Genetic Disorders (Exam 2) Flashcards

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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
What are some skeletal abnormalities of turner syndrome?
- Hip dislocation - Foot deformities - Osteoporosis - Idiopathic scoliosis
26
What is the pathophysiology of the fragile X syndrome?
Structural abnormality of X chromosomes
27
What is the clinical features of a patient with fragile X syndrome?
- Large head/ears/jaw - myopic - V shaped palate - Large testes - Active/autistic
28
What is partial deletion of chromosome? And how is it named?
- 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)
29
What are the early features of Prader Willi Syndrome?
- Hypotonia - Expresionless - Weak cry - Poor feeding - slow weight gain - dysmorphic fascial features
30
What are some late features of Prader Willi Syndrome?
- Improved muscle tone with coordination & motor delays - Persistent/compulsive appetite - Obesity - Hypogonadism - Mild/mod ID - Maladaptive behaviors
31
What are autosomal dominant disorders a result of?
- Abnormality or mutation in a single gene - Abnormal or mutated gene overrides the normal allele inherited from the other parent
32
What is the clinical pictures of osteogenesis imperfecta?
- Types I-IV - Brittle bones - Hyper extensible ligaments - Blue teeth - Skeletal deformities - Deafness - Small stature - Small limbs
33
What is the management of osteogenesis imperfecta?
Supportive
34
What is the clinical picture of tuberous sclerosis?
- Seizures - Intellectual disabilites - Sebaceous adenomas
35
What is the management of Tuberous Sclerosis?
Removal of tubers to stop seizures
36
What is the clinical picture of Neurofibromatosis/ von Recklinghausen Disease?
- Café au lait spots - Neurofibroma - ID - Seizures
37
What is the clinical picture of Huntington's Chorea?
- Movement, thinking & psychiatric disorders - Decline in physical, mental & behavioral function - Heart disease
38
What movement disorders are involved in a patient with Huntington's Chorea?
- 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
How is Huntington's Chorea managed?
- Just addressing the symptoms - Unable to prevent the physical, cognitive & behavior declines
40
Describe Autosomal Recessive disorder
- 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
What is the clinical picture of Phenylketonuria?
Untreated causes: - mental/growth retardation - seizures - Movement disorders
42
How is Phenylketonuria managed?
Diet - Good prognosis too
43
What is the clinical picture of Sickle Cell Anemia?
- Related to anemia & thrombosis/infarction - Severe anemia - jaundice - arthralgia - aseptic necrosis of femoral head - hemiplegia - Cranial nerve palsies - Pulmonary & renal dysfunction
44
How is sickle cell anemia managed?
Blood transfusion
45
What is the clinical picture of Cystic Fibrosis?
- Affects digestive & respiratory systems
46
How is cystic fibrosis managed?
- Replace enzyme in GI - Clear out secretion
47
What is the clinical picture of Fredreich's Ataxia?
- Ataxic gait - Demetria of UE/LE - speech distrubances - Pes cavus - Cardiomyopathies
48
How is Fredreich Ataxia managed?
Assistive device
49
What is the clinical picture of Krabbe's Disease?
May appear normal at birth, progressive retardation, paralysis, blindness, deafness, pseudo bulbar palsy - Fatal generally within 2 years
50
How is Krabbe's Disease managed?
- Supportive care
51
What is the clinical picture of Tay Sachs?
- Seen at 6 months - Loss motor - Death usually by 5 years old
52
Describe X-linked recessive inheritance
- Also called sex linked inheritance - Only affects males - Females are carriers - Family history (normal females & affected males)
53
What is the clinical picture of hemophilias?
- Hemarthrosis - Hematoma - Hematuria - Hemorrhages from minor injuries
54
How is hemophilias managed?
- Transfusion - Use of blood clotting factors
55
How is Muscular Dystrophy- Dushenne's diagnosed?
- Increased level of creatine kinase - Muscle biopsy
56
What is the clinical picture of muscular dystrophy dushenne?
- Worsening musculoskeltal - Trandelenburg - Scoliosis - muscle wasting
57
How is spinal muscular atrophy diagnosed?
- Serum enzymes - EMG - Muscle biopsy
58
What types of spinal muscular atrophy have a decreased life expectancy?
- Type I & II
59
What is a "normal" Karyotype?
46, XX or 46,XY
60
True or False: Turner Syndrome is only seen in females
True
61
What is the pathophysiology of Prader Willi Syndrome?
46XY-15q or 46XX-15q
62
What is the pathophysiology of Osteogenesis Imperfecta?
Deficit in collagen synthesis
63
What is the pathophysiology of Tuberous Sclerosis?
Spontaneous mutation related to increased paternal age
64
What is the pathophysiology of Neurofibromatosis/ von Recklinghausen Disease?
Spontaneous mutation or family related
65
What is the pathophysiology of Huntington's Chorea?
Progressive breakdown of nerve cells & gross atrophy of corpus striatum, neuronal degeneration in caudate nucleus/ putamen/deep nuclei & frontal cortex
66
What is Charcot-Marie- Tooth Disease?
Hereditary motor & sensory neuropathy or perineal muscular atrophy
67
What is the pathophysiology of phenylketonuria?
Absence of phenylalanine hydroxylase prevents conversion of phenylalanine to tyrosine
68
What is the pathophysiology of sickle cell anemia?
Chronic hemolytic anemia, sickle shaped RBCs, inheritance of HbS
69
What is the pathophysiology of Cystic Fibrosis?
Effects exocrine glands & sweat glands
70
What is the pathophysiology of Fredreich's Ataxia?
Degeneration of posterior spinal roots, posterior spinal cord, cerebellum, dorsal & ventral degeneration of spinocerebellar tracts & lateral corticospinal tracts
71
What is the pathophysiology of Tay Sachs Disease?
- genetic mutation on chromosome 15q - inability to produce hexosaminidase - CNS degeneration
72
What is the pathophysiology of hemophilias?
Bleeding disorders due to inherited deficiencies or abnormalities of coagulation factors
73
What is the pathophysiology of Muscular Dystrophy - Duchenne's?
- 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
What is pseudo hypertrophy?
Presentation of large gastrocnemius due to infiltration of fat & connective tissue
75
What is the pathophysiology of spinal muscular atrophy?
-Disease of anterior horn cells - Accelerated rate of neuronal cell apoptosis

Clinical Med (Year 2) (17 decks)

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