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GCD 8917 > Quiz 2: Chromosomal Abnormalities > Flashcards

Quiz 2: Chromosomal Abnormalities Flashcards

1
Q

How common are chromosomal abnormalities?

A

1/154 births

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2
Q

How common are the 2 types of aneuploidy?

A

X & Y: 1/475, Autosomes: 1/700

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3
Q

How common are structural chromosomal abnormalities?

A

1/375, Balanced: 1/500, Unbalanced: 1/1600

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4
Q

Where is aneuploidy likely to generate?

A

Meiosis I or II due to Nondisjunction

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5
Q

What deletion associated with Cri-du-chat?

A

Deletion in Chromosome 5p

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6
Q

What term describes symptoms due to insufficient gene product associated with deletions?

A

Haploinsufficiency

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7
Q

How likely is de novo cause of Cri-du-chat?

A

90%

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8
Q

Symptoms of Cri-du-chat?

A

1) High Pitched Cry
2) Hypertelorism - wide set eyes
3) Epicanthus

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9
Q

Acrocentric chromosome definition

A

Centromere is located near one end of the chromosome

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10
Q

Robertsonian translocations occur only between what type of chromosomes?

A

Acrocentric chromosomes

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11
Q

What are the acrocentric chromosomes

A

13, 14, 15, 21, 22

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12
Q

1q duplicaton syndrome genetics

A

1q duplication; de novo

Non-allelic homologous recombination (NAHR)

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13
Q

1q duplicaton syndrome symptoms

A

Developmental delay, small receding jaw

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14
Q

22q deletion Inheritance (DiGeorge, velocardiofacial, conotruncal)

A

Dominant (22 is a dominant age)

reduced penetrance and variable expressivity

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15
Q

22q deletion genetics

A

3 Mb deletion of 22q; can be inherited, nested deletions usually

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16
Q

22q deletion Sx

A

1) Congenital heart defect
2) palate abnormalities
3) hypocalcemia

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17
Q

Achondroplasia Inheritance

A

AD

paternal age effect

incomplete dominance (double-dominant effect)

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18
Q

Achondroplasia genetics

A

Point mutation of FGFR3 (fibroblast growth factor receptor)

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19
Q

Achondroplasia Sx

A

Reduced bone growth

short stature

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20
Q

Androgen insensitivity syndrome Inheritance

A

X linked

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21
Q

Androgen insensitivity syndrome Genetics

A

Androgen receptor gene

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22
Q

Androgen insensitivity syndrome Sx

A

“Female” physical features form

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23
Q

Angelman Inheritance

A

Paternal imprinting, AD

Chromosome 15

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24
Q

Angelman Genetics

A

15q deletion or paternal imprinting of that region

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25
Q

Angelman Sx

A

1) developmental delay
2) intellectual disability
3) “happy” demeanor

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26
Q

ASD Inheritance

A

Observed paternal age effect, multifactorial

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27
Q

ASD Genetics

A

CNVs

Copy Number Variation

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28
Q

ASD Sx

A

social difficulties/delays

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29
Q

Campomelic dysplasia Inheritance

“bent limb”

A

Sporadic

haploinsufficiency

sporadic genetic disease is not inherited from parents, but arises via a mutation

“bent limbs not a strong spine so insufficient and sporadic”

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30
Q

Campomelic dysplasia Genetics

A

Heterozygous mutation of SOX9 gene

SOX9 very important for development of the skeleton

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31
Q

Campomelic dysplasia Sx

A

1) Skeletal malformation

2) gonadal disgenesis in males (testes fail to form, ovaries form)

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32
Q

Congenital adrenal hyperplasia Inheritance

A

AR

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33
Q

Congenital adrenal hyperplasia Genetics

A

Enzymes of adrenal cortex

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34
Q

Congenital adrenal hyperplasia Sx

A

Virilization in XX individuals

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35
Q

Crit-du-chat Inheritance

A

Dominant

haploinsuffiency

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36
Q

Crit-du-chat Genetics

A

5p deletion; 90% de novo

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37
Q

Crit-du-chat Sx

A

1) Cry of the cat sounds
2) microcephaly
3) epicanthal folds
4) intellectual disability

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38
Q

Cystic fibrosis Inheritance

A

AR, 1/23 white individuals is a carrier

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39
Q

Cystic fibrosis Genetics

A

CFTR gene
cystic fibrosis transmembrane conductance regulator

When NOT working, chloride becomes trapped in cells

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40
Q

Cystic fibrosis Sx

A

frequent respiratory infections, gastrointestinal distress,

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41
Q

Down syndrome Inheritance

A

Sporadic, maternal age effect (can be inherited thru balanced translocations like Robertsonian)

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42
Q

Down syndrome Genetics

A

Trisomy 21 (nondisjunction)

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43
Q

Down syndrome Sx

A

1) Craniofacial features
2) intellectual disability
3) stunted growth
4) congenital heart defects

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44
Q

Duchenne Muscular Dystrophy Inheritance

A

“X-linked
(Carriers can be manifesting heterozygotes)”

“Duschenne loves his mother” - x linked

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45
Q

Duchenne Muscular Dystrophy Genetics

A

Mutation in DMD gene

codes for dystrophin, which strengthens muscle fibers and protects them from injury as muscles contract and relax

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46
Q

Duchenne Muscular Dystrophy Sx

A

Weakness

stiffness

ataxia

scoliosis - curvature of spine
loss of ambulation

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47
Q

Edward syndrome Inheritance

A

Sporadic

maternal age effect (can be inherited thru balanced translocations)

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48
Q

Edward syndrome Genetics

A

Trisomy 18 (nondisjunction)

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49
Q

Edwards syndrome Sx

A

1) Rocker bottom feet
2) intellectual disability
3) receding forehead
4) fist clench

50
Q

Familial hypercholesterolemia Inheritance

A

“AD

Present in Afrikanaer population”

51
Q

Familial hypercholesterolemia Genetics

A

LDLR mutation

When LDL receptors do not function correctly, LDL stays in the bloodstream longer than it should

52
Q

Familial hypercholesterolemia Sx

A

High cholesterol

xanthomas (fats build up under the surface of the skin)

atherosclerosis

Homozygotes express earlier

53
Q

Fanconi anemia Inheritance

A

AR (allelic heterogeneity, many are compound heterozygotes)

pretty bad so AR

54
Q

Fanconi anemia Genetics

A

FANCA frameshift or deletion

FANCA does inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability
Regulates differentiation of haematopoietic stem cells into mature blood cells

55
Q

Fanconi anemia Sx

A 
extreme tiredness (due to anemia)
frequent infections (immune cell deficiency)
easy bruising (low platelet)
nose or gum bleeding

All due to problems with hematopoeitic stem cell formation

56
Q

Fragile X syndrome Inheritance

A

X-linked Recessive

Females have milder syndromes

57
Q

Fragile X syndrome Genetics

A

Fragile site on X

58
Q

Fragile X syndrome Sx

A

Intellectual disability,

craniofacial features

59
Q

Hemochromatosis Inheritance

A

AR

reduced penetrance/sex influenced phenotype

(affects males more because of female lifestyle and menstruation/iron loss)

60
Q

Hemochromatosis Genetics

A

HFE gene mutation (HFe - high iron)

HFE protein regulates hepcidin production.

Hepcidin produced by the liver, determines how much iron is absorbed from the diet and released from storage sites in the body

61
Q

Hemochromatosis Sx

A

Enhanced iron absorption leading to:

1) cirrhosis
2) impotence (Iron deposition in the pituitary or the gonads leads to hypogonadism)
3) cardiomyopathy

62
Q

Hemophilia A Inheritance

A

X-linked

63
Q

Hemophilia A Genetics

A

F8 gene

LINE insertions - insertional mutagenesis is the creation of mutations of DNA by addition of one or more base pairs

64
Q

Hemophilia A Sx

A

Clotting problems, bleeding disorder

65
Q

Huntington disease Inheritance

A

AD; anticipation (polyglutamine disorder due to CAG repeat expansion)

66
Q

Huntington disease Genetics

A

Huntingtin gene (Huntingtin is critical for brain function)

Expansion of CAG repeats

67
Q

Huntington disease Sx

A

Neurological impairment

abnormal movements

fatal

68
Q

Klinefelter syndrome Inheritance

A

Sporadic, maternal age effect

69
Q

Klinefelter syndrome Genetics

A

XXY, nondisjunction

70
Q

Klinefelter syndrome Sx

A

Extra X chromosme

Tall opposite of Turner

infertility (don’t produce enough sperm to naturally fertilize egg)

lower IQ (mild)

71
Q

Leber hereditary optic neuropathy Inheritance

A

mtDNA (maternally inherited)

72
Q

Leber hereditary optic neuropathy Genetics

A

mtDNA mutation

73
Q

Leber hereditary optic neuropathy Sx

A

Visual impairment

74
Q

Male-limited precocious puberty Inheritance

A

Sex-limited AD

75
Q

Male-limited precocious puberty Genetics

A

LCGR gene mutations
luteinizing hormone/chorionic gonadotropin receptor

LCGR receptor constitutively activated ->Causes excessive production of testosterone, leading to precocious puberty in males

76
Q

Male-limited precocious puberty Sx

A

Early puberty in males (muscle growth, secondary sex charecteristics, short adults)

77
Q

Monoclonic epilepsy with red-ragged fibers (MERRF) Inheritance

A

mtDNA (maternally inherited)

78
Q

Monoclonic epilepsy with red-ragged fibers (MERRF) Genetics

A

Mitochondria tRNAlys mutation

tRNA molecule that binds L-lysine

79
Q

Monoclonic epilepsy with red-ragged fibers (MERRF) Sx

A

1) Seizures
2) Muscle stiffness
3) Myopathy
4) Dementia

80
Q

Myotonic dystrophy Inheritance

A

“MONTREALic”

AD
Northeastern Quebec

81
Q

Neurofibromatosis 1 (NF1) Inheritance

A

AD; age-dependent penetrance and variable expressivity

82
Q

Neurofibromatosis 1 (NF1) Genetics

A

NF1 gene mutation

neurofibromin helps regulate cell growth.

mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled - therefore tumors, melanocytes in eyes (lisch nodules)

83
Q

Neurofibromatosis 1 (NF1) Sx

A

Cafe au lait spots

lisch nodules (eye discoloration)

intellectual disability

tumors

84
Q

Patau syndrome Inheritance

A

Sporadic, maternal age effect (can be inherited thru balanced translocations like Robertsonian)

85
Q

Patau syndrome Genetics

A

Trisomy 13 (nondisjunction)

86
Q

Patau syndrome Sx

A

1) Cleft lip/palate
2) rocker bottom feet
3) intellectual disability
4) polydactyly
5) fist clench

87
Q

Polycystic kidney disease Inheritance

A

AD, variable expressivity

88
Q

Polycystic kidney disease Genetics

A

PKD1 or PKD2 mutation (Heterogeneic)

Heterogeneic: containing more than one allele of a gene

Polycystin-2 likely functions as a channel spanning the cell membrane of kidney cells. In conjunction with polycystin-1, the channel transports positively charged atoms (ions), particularly calcium ions, into the cell

89
Q

Polycystic kidney disease Sx

A

Cysts

progressive renal failure

90
Q

Prader-Willi Inheritance

A

Paternal imprinting, AD

91
Q

Prader-Willi Genetics

A

15q deletion or loss of paternal imprinting

92
Q

Prader-Willi Sx

A

1) hyperphagia
2) obesity
3) Intellectual disability

93
Q

Progressive hearing loss Inheritance

A

AD

94
Q

Progressive hearing loss Sx

A

Late-onset hearing loss, fitness of 1

95
Q

Retinitis pigmentosa Inheritance

A

AD AND AR (certain alleles cause AD, some cause AR- allelic heterogeneity)

96
Q

Retinitis pigmentosa Genetics

A

Mutation in ORP1 gene

97
Q

Retinitis pigmentosa Sx

A

Hereditary visual impairment

98
Q

Rett syndrome Inheritance

A

“X linked dominant; (lethal in hemizygous males)
Question: wouldn’t this be considered X linked incomplete dominance?)”

“Rett loved his mother but was stillborn”

99
Q

Rett syndrome Genetics

A

MECP2 gene (Methyl-CpG Binding Protein 2) - epigentic

MECP2 gene, which is found on the X chromosome

MECP2 needed for brain development

100
Q

Rett syndrome Sx

A

Rapid onset of neurological problems

101
Q

Smith Magenis Inheritance

A

Dominant

haploinsufficiency

“Guys named Smith used to be dominant - to compensate for their haplo-insufficiency”

102
Q

Smith Magenis Genetics

A

RAI1 deletion; 17p11.2; de novo

103
Q

Smith Magenis Sx

A

Sleep disturbances

self-injurious behaviors

104
Q

Split/hand foot malformation Inheritance

A

AD, incomplete penetrance (affects about 70%)

105
Q

Split/hand foot malformation Sx

A

Ectrodactyly

Greek ektroma “abortion” and daktylos “finger”
missing middle digit

106
Q

Thanotophoric dysplasia Inheritance

A

AD

107
Q

Thanotophoric dysplasia Genetics

A

FGFR3 mutation (same as Achon?)

Fibroblast growth factor 3 is expressed in cartilage, brain, intestine, and kidneys

108
Q

Thanotophoric dysplasia Sx

A

Lethal in neonatal period (fitness of 0)

thanatophorus means “death bringing”

109
Q

Turner syndrome Inheritance

A

Sporadic b/c X chromosome missing due to nondisjunction

110
Q

Turner syndrome Genetics

A

Loss of X chromosome (nondisjunction)

111
Q

Turner syndrome Sx

A

missing X chromosome

1) Short stature
2) shield chest (widely spaced nipples)
3) low hairline
4) intellectual disability

112
Q

Williams Syndrome Inheritance

A

Dominant

haploinsufficiency

parental inversion increases recurrence risk

113
Q

Williams Syndrome Genetics

A

7p11. 23 deletion
1. 5 Mb

includes ELN gene needed to make elastin

114
Q

Williams Syndrome Sx

A

1) supravalvular aeortic stenosis
2) extreme friendliness
3) characteristic facial features (broad forehead, wide mouth, puffy eyelids)

115
Q

Wolf-Hirschorn Inheritance

A

Dominant

haploinsufficiency

116
Q

Wolf-Hirschorn Genetics

A

4p microdeletion

de novo

117
Q

Wolf-Hirschorn Sx

A

1) “Greek-helmet”
2) hypotonia
3) heart defects
4) shorter life expectancy

118
Q

X-linked epilepsy and cognitive impairment Inheritance

A

X linked and sex limited; affects females

119
Q

X-linked epilepsy and cognitive impairment Genetics

A

Loss of surface adherin proteins on neurons from one of the X chromosomes; causes malfunction as X inactivation happens with the two different X’s (males don’t have miscommunication and compensate some other way)

120
Q

X-linked epilepsy and cognitive impairment Sx

A

Developmental delay in females

male hemizygotes unaffected

121
Q

Xeroderma pigmentosum Inheritance

A

AR; 20% of cases are from offspring of first cousins

122
Q

Xeroderma pigmentosum Sx

A

1) Ultraviolet light sensitivity
2) freckling
3) skin cancer

GCD 8917 (5 decks)

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