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Medical Genetics > Genetic Modes Of Inheritance > Flashcards

Genetic Modes Of Inheritance Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

Who do x linked disorder occur most severe in

A

Males

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2
Q

What type of disorder is duchenne muscular dystrophy? Why type of abnormality is it?

A

X linked, out of frame deletion so dystrophin is not functional

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3
Q

What type of disorder is Becker muscular dystrophy? Why type of abnormality is it?

A

X linked, in frame deletion

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4
Q

What is an out of a frame mutation

A

Deleted message does not fit together

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5
Q

What is an in frame mutation

A

Deleted message fits together

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6
Q

What type of disorder is hemophilia?

A

X linked

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7
Q

What happens in hemophilia

A

Clotting doesn’t happen as it should. Missing factor eight? A missing factor nine? B

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8
Q

What is Becker muscular dystrophy

A

Allelic form, less severe, occurs later in life

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9
Q

Clinical manifestations of duchenne muscular dystrophy

A

Passed away from heart and lung complications, need wheelchair by age 13, males show weakness early on, difficulty getting off the floor, calf hypertrophy

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10
Q

What type of disorder is menkes syndrome/ kinky hair syndrome

A

X linked

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11
Q

Clinical features of menkes syndrome/kinky hair syndrome

A

Abnormal/sparse kinky hair, hypotonic, seizures, failure to thrive, motor loss, usually die by age 3 but those who survive are disabled

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12
Q

Mike menkes?

A

Some function of the protein still there so clinical manifestations are not as severe

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13
Q

What happens to males in menkes syndrome/kinky hair syndrome

A

They do not reproduce

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14
Q

What is haldanes syndrome in kinky hair syndrome?

A

Affected males do not reproduce but disease incidence stays the same every year. This means that 1/3 of cases each year are new mutations

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15
Q

In what disorder is there a copper transport ATPase error leading to low copper and ceruloplasmin

A

Menkes disorder

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16
Q

Who is most affected in X-linked recessive disorders where the mother is the carrier

A

Males because they only have one copy of the X. Daughters can only be carriers

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17
Q

How are daughters affected in excellent recessive disorder’s where the father is affected? Sons?

A

all daughters are carriers and all sons are unaffected

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18
Q

Is there male to male transmission in X-linked recessive disorders?

A

No

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19
Q

As is there make to make transmission in x linked dominant disorders

A

No

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20
Q

Where is there vertical transmission?

A

X linked dominant disorders

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21
Q

What happens if males are affected in x linked dominant disorders

A

Males are not affected bc you get a miscarriage

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22
Q

What type of disorder is hypophosphatemic rickets

A

X linked dominant male lethal

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23
Q

Clinical manifestations of hypophosphatemic rickets

A

Bowing of lower extremities

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24
Q

Clinical manifestations of aicardi syndrome

A

agenesis of corpus callosum, distinctive chorioretinal lacunae (lakes in retina)

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25
Q

Type of disorder of aicardi syndrome

A

X linked dominant male lethal

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26
Q

Clinical manifestations of incontinentia pigmenti

A

Affects hair skin nails teeth (ectoderm) , seizures, cognitive delay, retinal detachment

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27
Q

Type of disorder of incontinentia pigmenti

A

X linked dominant male lethal

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28
Q

What disorder has 4 stages

A

Incontinentia pigmenti

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29
Q

4 stages of incontinentia pigmenti

A

Blistering
Wart like rashes
Swirling, macular, hyperpigmentation
Lines of lashko, linear hypopigmentation, mimic Christmas tree

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30
Q

Type of disorder of rett syndrome

A

X linked dominant male lethal

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31
Q

Clinical manifestations of Rett syndrome

A

Microencephalopathy, regression, seizures, hand wringing

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32
Q

What happens with the transmission in y linked disorders

A

Male fathers pass to all sons

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33
Q

What are sex limited disorders

A

Disorders where it will only affect one sex such as breast cancer

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34
Q

What are sex influence disorders

A

Disorders where both sexes can have the disorder but will express it in different ways such as pattern baldness

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35
Q

Who passes mitochondrial inheritance on

A

Females only

36
Q

is there a high mutation rate in mitochondrial inheritance

A

Yes because there is no repair mechanism

37
Q

What is heteroplasmy

A

Some mitochondria I have mutations in some don’t. May not reach threshold so some people are asymptomatic

38
Q

What is Homoplasmy

A

Mutations in all mitochondria so high likelihood of symptoms

39
Q

What does MELAS stand for

A

Mitochondrial encephalopathy, lactic acidosis, stroke like episode

40
Q

Symptoms of MELAS?

A

Seizures, headaches, vomiting, 2 to 10 years old

41
Q

What type of disorder is MELAS

A

Mitochondrial inheritance

42
Q

What type of disorder is MERRF

A

Mitochondrial inheritance that is heteroplasmy

43
Q

What does MERRF stand for

A

Myoclonic epilepsy with ragged red fibers

44
Q

What type of mutation is MERRF?

A

Point mutation

45
Q

Clinical manifestations of MERRF

A

Ataxia, dementia

46
Q

What type of disorder is LHON

A

Mitochondrial inheritance

47
Q

What does LHON stand for

A

Leber hereditary optic neuropathy

48
Q

Clinical manifestations of LHON

A

Sudden blurred vision in adulthood beginning with one eye

49
Q

What type of mutation is LHON

A

3 Point mutations all with different penetrancd

50
Q

Are more males or females affected in LHON

A

Males

51
Q

What is penetrance

A

Either have the symptoms or don’t; 100% means you have all the symptoms

52
Q

What is variable expressitivity

A

Severity of symptoms

53
Q

What is vertical transmission

A

Inheritance is in every generation

54
Q

If there is vertical transmission what type of disorder is it? What if there is no vertical transmission?

A

Yes- dominant

No- recessive

55
Q

If there is only male to male transmission what type of disorder is it? What if it’s not?

A

Yes- y linked

No- not y linked

56
Q

What type of disorder is it if only one sex is affected? What if not?

A

Yes- x linked

No- autosomal

57
Q

What if affected mothers have unaffected kids?

A

Yes- not mitochondria

No- mitochondrial

58
Q

Epigenetic factors?

A

methylation; some genes on at certain times and some off

59
Q

Are there mutations at the nucleotide level in epigenetic factors

A

No

60
Q

What type of disorder is Prader willi syndrome PWS

A

Genomic imprinting; deletion of paternal 15 q

61
Q

What disorder has early feeding problems then hyperphagia

A

PWS

62
Q

Clinical manifestations of PWS

A

Short, intellectual disability, behavioral problems, hypogonadism

63
Q

MC genetic causes obesity?

A

PWS

64
Q

What disorder is also called happy puppet

A

Angelman syndrome (AS)

65
Q

Clinical manifestations of AS

A

Small head, arm flapping, ataxia, inappropriate laughter, no speech, intellectual disability

66
Q

What type of disorder is Angelman syndrome

A

Genomic imprinting 15 q deletion of maternal

67
Q

What is the chromosome difference in Beckwith Weidman syndrome (BWS)

A

P 11 methylation defect

68
Q

Clinical manifestations of beckwith Weidman syndrome (BWS)

A

Overgrowth, enlarged tongue, body, and organs , body asymmetry, abdominal wall defects, hemangiomas, earlobe crease

69
Q

What are the clinical manifestations of Russell silver syndrome (RSS)

A

Undergrowth, intrauterine growth, retardation, triangular faces, finger clinidactyly, abnormal sweating, body asymmetry

70
Q

Dynamic mutations?

A

Repeat become unstable after certain number of repeats

71
Q

Anticipations?

A

Larger repeats so symptoms are early onset and more severe

72
Q

Premutations?

A

Repeat size length are more than normal but they have less than the disease state

73
Q

What type of disorder is myotonic dystrophy

A

Autosomal dominant, triplet repeat disorder

74
Q

What type of disorder is congenital myotonic dystrophy

A

Autosomal dominant, triplet repeat disorder with more expansions than myotonic alone

75
Q

What type of disorder is Huntington disease

A

Autosomal dominant, Triple repeat of CAG

76
Q

Clinical manifestations of myotonic dystrophy

A

Myotonia, Face muscle atrophy and weakness, cataracts, heart condition, low IQ

77
Q

What is myotonia

A

Can’t release grip

78
Q

Clinical manifestations of congenital myotonic dystrophy

A

Severe hypotonia, failure to thrive, intellectual disability

79
Q

Clinical manifestations of Huntington disease

A

Decreased motor control, drunk movements, changing mood, memory trouble

80
Q

What type of disorder is fragile X syndrome

A

X linked, trinucleotide repeat of FMR1 gene

81
Q

What do the symptoms vary based on in fragile X syndrome

A

Number of repeats like pre-mutation or full mutation

82
Q

Who is fragile X more common in males or females?

A

Females

83
Q

What is the most common inherited form of intellectual disability

A

Fragile X syndrome

84
Q

Clinical manifestations of fragile X syndrome

A

Long face, protruding ears, autistic behavior, intellectual disability

85
Q

What causes Russell silver syndrome (RSS)

A

Most ppl have 11P15.5 methylation defects, others have a maternal uniparental disomy of chromosome 7, the rest is unknown

Medical Genetics (15 decks)

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