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Clin Med 2 > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

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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
what percentage of children survive past 1 year?
10%
26
true/false | seen more in females then males 3:1
the truth
27
Clinical picture of Edwards Syndrome
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
28
true/false | Is Patau syndrome correlated with advanced maternal age?
dats da truth
29
Clinical picture of Patau syndrome
1) CNS/CV/MS/urogenital 2) severe-profound MR 3) An/microopthalmia - no eyes/small eyes
30
What percentage of babies survive past 3 years?
5%
31
Sec chromosome disorders are characterized by...
absent, extra, or damaged chromosomes
32
45XO is also known as
Turner Syndrome
33
Turner syndrome is only found in which Sex?
Females
34
True/False | Turner syndrome is the most common cause of spontaneous abortions
True
35
True/False | Turner Syndrome is correlated to advanced maternal age.
False
36
Physical features of Turner Syndrome
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
Comorbidity w/ Turner Syndrome
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
Skeletal abnormalities associated w/ Turner Syndrome
1) hip dislocation 2) Foot deformities 3) osteoporosis 4) Idiopathic scoliosis
39
47XXY is also known as
Klinefelter Syndrome
40
Klinefelter Syndrome is characterized
An extra X chromosome in males
41
Clinical picture of Klinefelter Sundrome
1) Testes fail to enlarge 2) Gynecomastia-- breast development 3) Normal IQ (unlike Connor) 4) Sterility (probs like Connor)
42
Klinefelter Syndrome in severe karyotypes
1) severe MR 2) hypertelorism 3) Strabismus 4) cleft palate 5) radioulnar stenosis 6) genu valgus 7) malformed cervical vertebrae 8) pes planus
43
Fragile X syndrome is characterized by:
abnormalities w/ the X chromosome functioning; not missing parts, just parts don't work right (like ehlers)
44
Clinical features of Fragile X syndrome are:
1) large head/ears/jaw 2) myopic 3) v-shaped palate 4) large testes 5) active (ADHD)/autistic
45
True/False | There is no intervention for Fragile X syndrome
true
46
True/False | Fragile X syndrome is only found in males
Truth
47
Partial deletion of a chromosome is...
where a section of the chromosome is missing
48
When is it usually deleted?
Replication process during meiosis
49
Which arm is the Q arm?
The long arm of the Chromosome
50
Which arm is the P arm?
The short arm of the chromosome
51
46XY-4p OR 46XX-4p is also known as?
Wolf-Hirschhorn syndrome
52
Which arm is effected by Wolf-Hirschhorn Syndrome?
the short arm of chromosome 4 (-4p)
53
True/False | Wolf-Hirschhorn is very rare, only 120 cases since 1992?
True
54
Clinical features of Wolf-Hirschhorn syndrome?
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
46XY-5p OR 46XX-5p is also known as?
Cri-du-chat syndrome; cry of the cat syndrome due to the high pitched cry at birth
56
Which arm is effected by Cri-du-chat syndrome?
the short arm of the 5th chromosome (-5p)
57
Clinical features of Cri-du-chat syndrome
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
46XY-15q OR 46XX-15q is also known as?
Prader Willi Syndrome
59
synophrys looks like?
unibrow
60
Early Clinical features of Prader Willi Syndrome?
1) hypotonia 2) expressionless face 3) waek cry 4) poor feeding 5) slow weight gain* 6) dysmorphic facial features
61
Late Clinical features of Prader Willi Syndrome?
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
Prader Willi Syndrome is associated with?
Lack of development of secondary sex characteristics and FTT
63
Autosomal Dominant Disorders results from?
abnormality or mutation in a single gene
64
True/False | Abnormal or mutated genes override the normal allele inherited from the other parent.
True
65
Pathophysiology of Osteogenesis Imperfecta
deficits in collagen synthesis
66
True/False | The children can be born with Fx
true
67
Clinical picture of Osteogenesis imperfecta
1) types I-IV 2) brittle bones 3) hyperextensible ligaments 4) blue teeth 5) skeletal deformities 6) deafness 7) Small stature/limbs
68
Pathophysiology of Tuberous Sclerosis
Spontaneous mutation related to increased paternal age
69
Clinical picture of Tuberous Sclerosis
Triad of symptoms: 1) seizures 2) MR 3) sebaceous adenomas
70
sebaceous adenomas are...
a cutaneous condition characterized by a slow-growing tumor usually presenting as a pink, flesh-colored, or yellow papule or nodule.
71
Pathophysiology of von Recklinghausen Disease (neurofibromitosis)
spontaneous mutation or family related
72
Clinical picture of von Recklinghausen Disease
cafe au lait spots, neurofibroma, MR, seizures
73
Pathophysiology of Huntington's Chorea
Gross atrophy of corpus striatum, neuronal degeneration in caudate nucleus/putamen/deep nuclei and frontal cortex.
74
Clinical picture of Huntington's Chorea
Choreic movements, variable progression and regression; involuntary and uncontrolled movements
75
True/False | There is a cognitive decline as the disease progresses
True
76
Huntington's Chorea develops
later in life 30s,40s,50s
77
Pathophysiology of Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy or peroneal muscular atrophy
78
Clinical picture of Charcot-Marie-Tooth disease
Pes cavus hammer toe foot drop hip/knee flex w/gait to compinsate
79
What can be done to CMT-2
can strengthen and lengthen but cant reverse damage
80
What is an autosomal recessive disorder?
allele inherited from each parent is abnormal. The combo of the 2 alleles results in the disorder.
81
Do the parents need to have the disorder, in an autosomal recessive disease?
Negative ghost rider
82
Pathophysiology of Hurler Syndrome
error in metabolism
83
Clinical picture for Hurler Syndrome
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
Management of Hurler Syndrome
no medical management, just supportive
85
Pathophysiology of Phenylketonuria (PKU)
Absence of phenylalanine hydroxylase prevents conversion of phenylalanine to tyrosine.
86
Clinical picture of Phenylketonuria (PKU)
untreated causes MR/GR, seizures and movement disorders

Clin Med 2 (5 decks)

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