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MED208 Histopathology > Genetic Disease > Flashcards

Genetic Disease Flashcards

1
Q

A pathological condition caused by an absent or defective gene or by a chromosomal aberration

A

Genetic disorder

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2
Q

How many genes that are involve in changes to their structure, causing disease

A

30,000

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3
Q

Diseases derived from parents

A

Hereditary disorders

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4
Q

Diseases transmitted in gametes through generation

A

Familial disorders

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5
Q

True or False

Some congenital diseases are not genetic and not all genetic diseases are congenital

A

True

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6
Q

What does mutations imply?

A

permanent changes in the DNA

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7
Q

Mutations affecting ____ transmitted to progeny

A

germ cells

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8
Q

Mutation affecting ____ does not transmit but casues cancers or malformations

A

somatic cells

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9
Q

Enumarate types of mutations

A
    1. Point mutations (missesnse mutaions)
    1. Frameshift mutation
    1. Trinucleotide repeat mutations
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10
Q

type of mutation

Substitution of single nucleotide base resulting in replacement of single amino acid in protein molecule

A

Point mutations (missense mutations)

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11
Q

Example of disease in Point mutation

A

sickle cell anemia

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12
Q

type of mutation

Insertion or deletion of one or two base pairs

A

Frameshift mutation

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13
Q

type of mutation

Mutation that changes of DNA reading frame

A

Frameshift mutation

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14
Q

Example of disease in Frameshift mutation

A

Tay-Sachs disease

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15
Q

type of mutation

Amplification of 3 sequential nucleotides

A

Trinucleotide repeat mutations

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16
Q

Example of disease in Trinucleotide repeat mutations

A

Fragile X syndrome

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17
Q

Changing one letter in the sentence/(gene)

Original: The fat cat ate the wee rat

Point Mutation: The fat hat ate the wee rat.

A

Point Mutation

Original: The fat cat ate the wee rat

Point Mutation: The fat hat ate the wee rat.

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18
Q

Adding or removing letters in a sentence/(gene)

Original: The fat cat ate the wee rat

Frame Shift: The fat caa tet hew eer at

A

Frame-shift mutation

Original: The fat cat ate the wee rat

Frame Shift: The fat caa tet hew eer at

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19
Q

Removal of just one “word,” or longer deletions

Original: The fat cat ate the wee rat Deletion: The fat ate the

A

Deletion

Original: The fat cat ate the wee rat Deletion: The fat ate the

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20
Q

Addition of extra word or extra DNA

Original: The fat cat ate the wee rat.

Insertion: The fat cat xlw ate the wee rat.

A

Insertion

Original: The fat cat ate the wee rat.

Insertion: The fat cat xlw ate the wee rat.

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21
Q

Enumerate the different Genetic Disorders

A
  • Mandelian Disorder
  • Complex Disorders
  • Chromosomal abnormalities
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22
Q

Categories of Genetic Disorders

Resulting from mutations in single genes. These
diseases are hereditary and familial.

A

Mendelian Disorder

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23
Q

Categories of Genetic Disorders

They include many uncommon
conditions, such as storage diseases and inborn errors of metabolism.

A

Mendelian Disorder

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24
Q

Categories of Genetic Disorders

Involving multiple genes as well as environmental
influences or sometimes called multifactorial diseases.

A

Complex Disorders

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25
Q

Categories of Genetic Disorders

They include some of
the most common disorders of mankind, including hypertension, diabetes,
and allergic and autoimmune diseases.

A

Complex Disorders

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26
Q

Categories of Genetic Disorders

Changes in the number or structure of
chromosomes

A

Chromosomal abnormalities

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27
Q

Categories of Genetic Disorders

Several rare developmental abnormalities are attributable to
chromosomes alterations.

A

Chromosomal abnormalities

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28
Q

Prevalence of Mandelian Disorders

A

Uncommon

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29
Q

Penetrance of Mendelian Disorders

A

High

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30
Q

Defect of Mendelian Disorders

A

Single Gene

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31
Q

Prevalence of Chromosal Disorders

A

Uncommon

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32
Q

Penetrance of Chromosal Disorders

A

High

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33
Q

Defect of Chromosal Disorders

A

Chromosome structure/function

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34
Q

Prevalence of Complex Multigenic Disorders

A

Common

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35
Q

Penetrance of Complex Multigenic Disorders

A

Low

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36
Q

Defect of Complex Multigenic Disorders

A

Polymorphisms

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37
Q

Enumerate the 3 Mendelian patterns of inheritance

A
  • Autosomal Dominant disorder
  • Autosomal Recessive disorders
  • X-linked disorders
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38
Q

Mendelian pattern of inheritance

Manifests in heterozygous states

A

Autosomal Dominant

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39
Q

Mendelian pattern of inheritance

Mutation of one allele

A

Autosomal Dominant

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40
Q

Mendelian pattern of inheritance

Mutation of one allele

A

Autosomal Dominant

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41
Q

Mendelian pattern of inheritance

At least one parent is affected, males/female;** both can transmit**

A

Autosomal Dominant

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42
Q

Mendelian pattern of inheritance

Enzyme proteins not affected but receptors and structural proteins are involved;
onset late sometimes

A

Autosomal Dominant

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43
Q

Examples of Autosomal Dominant disorders

A

Marfan’s syndrome, Achondroplasia, Huntington’s disease

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44
Q

True or False

If an affected person marries an unaffected individual, every child has 40% chance of
inheriting the disorder

A

False; 50%

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45
Q

Disorders

Examples of Autosomal Dominant in the Nervous System

A
  • Huntington’s Disease
  • Neurofibromatosis
  • Myotonic Dystrophy
  • Tuberous sclerosis
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46
Q

Disorders

Examples of Autosomal Dominant disorders in the Skeletal System

A
  • Marfan Syndrome
  • Ehlers-Danlos Syndrome (some variants)
  • Osteogenesis Imperfecta
  • Achondroplasia
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47
Q

Example of Autosomal Dominant disorder of the Urinary System

A

Polycystic kidney disease

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48
Q

Examples of Autosomal Dominant disorder of the Gastointestinal tract

A

Familial polyposis coli

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49
Q

Hematopoietic examples of Autosomal Dominant disorder

A
  • Hereditary spherocytosis
  • Von Willebrand Disease
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50
Q

Metabolic examples of Autosomal Dominant disorder

A
  • Familial Hypercholesterolemia
  • Acute intermittent porphyria
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51
Q

Categories of Genetic Disorders

Largest group; both copies (alleles) are mutated;

A

Autosomal Recessive

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52
Q

Categories of Genetic Disorders

Parents asymptomatic (trait); but children show disease

A

Autosomal Recessive

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53
Q

Categories of Genetic Disorders

Siblings have 1 in 4 chance of being affected (25% risk)

A

Autosomal Recessive

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54
Q

Categories of Genetic Disorders

Possibility more in consanguineous marriage

A

Autosomal Recessive

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55
Q

Categories of Genetic Disoders

Possibility more in consanguineous marriage

A

Autosomal Recessive

56
Q

Categories of Genetic Disorders

Males and females equally affected; early onset

A

Autosomal Recessive

57
Q

Categories of Genetic Disorders

It involves enzyme proteins

A

Autosomal Recessive

58
Q

Example of Autosomal Recessive disorder that involves enzyme proteins

A
  • Cystic Fibrosis
  • Wilson’s disease
  • Sickle cell anemia
59
Q

Metabolic examples of Autosomal Recessive disorder

A
    • Cystic fibrosis
  • PKU
  • Galactosemia
  • Homocystinuria
  • Lysosomal Storage Diseases
    *Α1 – Antitrypsin Deficiency
  • Wilson Disease
  • Hemochromatosis
  • Glycogen Storage Diseases
60
Q

Hematopoietic examples of Autosomal Recessive disorder

A
  • Sickle Cell Anemia
  • Thalassemias
61
Q

Examples of Autosomal Recessive disorder of the Endocrine System

A
  • Congenital Adrenal hyperplasia
62
Q

Examples of Autosomal Recessive disorder of the Nervous System

A
  • Neurogenic Muscular Atrophies
  • Friedreich Ataxia
  • Spinal Muscular Atrophy
63
Q

Examples of Autosomal Dominant disorder of the Skeletal System

A
  • Ehlers Danlos Syndrome (some variants)
  • Alkaptonuria
64
Q

Categories of Genetic Disoder

Sex-linked disorders

A

X-linked

65
Q

Categories of Genetic Disorder

all are X-linked, no Y’s yet

A

X-linked

66
Q

True or False

most X-linked disorders are recessive

A

True

67
Q

It is transmitted by ____ females to their sons

A

heterozygous

68
Q

True or False

affected males do transmit to sons and daughters become
carriers

A

Do NOT

affected males do not transmit to sons but daughters become
carriers

69
Q

Examples of X-lined disorders

A

Hemophilia, Duchenne muscular dystrophy

70
Q

Often appear before age six and it is commonly characterized by calf muscle hypertrophy, scoliosis, developmental delay, learning differences, delayed speech

A

Duchenne Muscular Dystrophy (DMD)

includes: scoliosis, short stature, freq. falls, difficult climbing, toe walk, progressive muscle weakness and atrophy,

71
Q

Often appear before age six and it is commonly characterized by calf muscle hypertrophy, scoliosis, developmental delay, learning differences, delayed speech

A

Duchenne Muscular Dystrophy (DMD)

includes: scoliosis, short stature, freq. falls, difficult climbing, toe walk, progressive muscle weakness and atrophy,

72
Q

Examples of X-linked disorders in the Musculosketal

A

Duchenne muscular dystrophy

73
Q

Examples of X-linked disorders in the Blood

A
  • Hemophila A and B
  • Chronic granulomatous disease
  • G6PD deficiency
74
Q

Examples of X-linked disorders in the Immune

A
  • Agammaglobulinemia
  • Wiskott-Aldrich Syndrome
75
Q

Metabolic examples of X-linked disorders

A
  • Diabetes Insipidus
  • Lesch-Nyhan Syndrome
76
Q

Examples of X-linked disorders in the Nervous system

A

Fragile X syndrome

77
Q

Numeric Abnormalities of Chromosal Abnormalities

May affect autosomes or sex chromosomes.

A

CHROMOSOMAL
ABNORMALITIES

78
Q

Enumerate 2 abnormalities of Chromosomal abnormalities

A

Numeric Abnormalities and Structural Abnormalities

79
Q

Numeric Abnormalities of Chromosal Abnormalities

What is the normal chromosal count

A

The normal chromosomal count is 46

80
Q

Numeric Abnormalities of Chromosal Abnormalities

What is the normal chromosal count

A

The normal chromosomal count is 46

81
Q

How many chromosal count from each parent

A

that is 2n=46; 23 from each parent

82
Q

How many autosomes are there from each parent

A

22 autosomes

83
Q

How many sex chromosome from each parent?

A

1 sex chromosome

X or Y chromosome

84
Q

What sex chromosome/s can you receive from your mother

A

X chromosome

85
Q

What sex chromosome/s can you receive from your father

A

X or Y chromosome

86
Q

exact multiple of haploid number (2n)

A

Euploid

87
Q

increasing multiples (3n or 4n)

A

Polypoid

88
Q

increasing multiples (3n or 4n)

A

Polypoid

89
Q

results in spontaeneous abortion

A

Polypoid

90
Q

not an exact multiple of n

A

Aneuploid

91
Q

Extra information

A

Gametes then have an extra chromosome (n+1) or one less (n-1);
Fertilization of such gametes by normal gametes result in 2n+1 (Trisomy) or
2n-1(monosomy)

92
Q

These result from chromosomal breakage followed by loss or rearrangement of material

A

Structural Abnormalities

93
Q

Enumerate the different loss/rearragement of Structural Abnormalities

A
  • Translocation
  • Isochromosomes
  • Deletion
  • Inversions
  • Ring chromosomes
94
Q

Chromosomes:

A

Chromosomes:
*Described as having short arm (p=petit) and long arm (q)
*Each arm then divided into numbered regions (1,2,3….) from the centromere outward
*Each region has bands that are numerically arranged
*Thus 2q34 = chromosome 2, long arm, region 3, band 4

95
Q

________ deviations in sex chromosomes are compatible
with life

A

Extreme karyotype deviations in sex chromosomes are compatible
with life

96
Q

Why?

A

This is believed to be due to the

  • Lyonization (inactivation) of X chromosome and
  • scant genetic information carried by the Y chromosomes.
97
Q

All but one X chromosome is ____ and so a 48, XXXX female has only one active X chromosome

A

inactivated

98
Q

The inactive X, forms a discrete body within the nucleus called a

A

Barr body

99
Q

How many Barr body does a normal female have

A

Normal females (XX) will have** one Barr body**

100
Q

How many Barr bodies does a normal male have

A

None, Normal males (XY) or (XO) individuals will have no Barr bodies

101
Q

Chromosomal disorders occur:

Due to absence

A

deletion, monosomy

102
Q

Chromosomal disorders occur:

Due to absence excess

A

(trisomy)

103
Q

Chromosomal disorders occur:

Due to absence abnormal
arrangements

A

(translocations) of chromosomes

104
Q

Loss effects, more severe defects than ____

A

gain

105
Q

_____ are better tolerated than autosome abnormalities

A

Sex chromosome abnormalities

106
Q

Sex chromosome disorders are ____ and sometimes are not detected at birth e.g.
infertility

A

subtle

107
Q

Usually chromosomal disorders are the result of ____ changes. Hence if
parents are normal, risk of recurrence in siblings is low; exception _____

A

Usually chromosomal disorders are the result of de novo changes. Hence if
parents are normal, risk of recurrence in siblings is low; exception Down syndrome

108
Q

Down Syndrome is also known as

A

Trisomy 21

109
Q

What is the cause of Trisomy 21

A
  • Meiotic non-disjunction of chromosome 21
  • results in extra chromosome count
    (47; 2n+1)
110
Q

Mostly, parents are normal; Incidence increases with _____

A

maternal age

111
Q

In a few (familial form), translocation occurs from chromosome —– to chromosome —— or ——-

A

In a few (familial form), translocation occurs from chromosome** 21** to chromosome 22 or
**14 **(no extra)

112
Q

Trisonomy 21 is marked by

A

◦ Severe mental retardation
◦ Large forehead, broad nasal bridge, wide-spaces eyes, epicanthal folds, large
protruding tongue
◦ Brushfield’s spots (white spots on the iris)
◦ Short, broad hands with curvature of the fifth finger
◦ Simian crease, a single palmar crease
◦ Unusually wide space between 1st and 2nd toes

113
Q

“white spots on the iris”

A

Brushfield’s spots

114
Q

a single palmar crease

A

Simian crease

115
Q

Trisonomy 18

A

Edward’s Syndrome

116
Q

Mental retardation, prominent occiput, micrognathia, low set ears, short
neck, rocker-bottom feet, flexion deformities of the fingers and congenital
heart disease

A

Edward’s Syndrome

117
Q

Is manifested by mental retardation, microcephaly, microphthalmia, brain
abnormalities, cleft lip and palate, polydactyly, rocker-bottom feet, umbilical
hernia, renal defects and congenital heart disease.

A

PATAU’S SYNDROME

118
Q

Cri Du Chat

A

Cry of a cat

119
Q

Cry of a cat is also known as

A

Le Jeune’s Syndrome

120
Q

LE JEUNE’S SYNDROME is caused by deletion of the short arm of —–

A

chromosome 5

121
Q

LE JEUNE’S SYNDROME is marked by severe —, —- and unusual —-.

A

Severe mental retardation, microcephaly and unusual catlike cry.

122
Q

Low birth rate (LBW), round face, hypertelorism, low set ears and epicanthal folds

A

LE JEUNE’S SYNDROME

123
Q

Male hypogonadism, with 2 X and 1 or more Y chromosomes e.g. 47, XXY

A

Klinefelter’s syndrome

124
Q

What can be seen in Klinefelter’s Syndrome

A

Single Barr body on buccal smear

125
Q

contributing factors of klinefelter’s syndrome

A
  • Advanced maternal age
  • irradiation of either parents
126
Q

Features of Klinefelter’s syndrome

A
  • Atrophic testis
  • tall stature
  • eunuchoid appearance gynecomastia
  • mental retardation (mild)
127
Q

—— testosterone production and —– pituitary gonadotropins

A

Decreased testosterone production and increased pituitary gonadotropins

128
Q

Have associated disorders of klinefelter’s syndrome

A

like cancers (breast) or autoimmune diseases (SLE)

129
Q

causes Hypogonadism in females; Is most common cause of primary amenorrhea.

A

Turner’s Syndrome

130
Q

how many barr body does a px with turner’s syndrome have

A

No Barr body

131
Q

True or False

Turner’s Syndrome does NOT complicated by mental retardation

A

True

132
Q

Ovaries are replaced by fibrous —–

A

Ovaries are replaced by fibrous streaks

133
Q

—– estrogen production and —— pituitary gonadotropins

A

Decreased estrogen production and increased pituitary gonadotropins

134
Q

Infantile genitalia and poor breast development

A

Turner’s Syndrome

135
Q

Short stature, webbed neck, shield like chest with widely spaced nipples, higharched palate, and a wide carrying angle of the arms (cubitus valgus).

A

Turner’s Syndrome

136
Q

Bicuspid aortic valve, coarctation of aorta, horse-shoe kidney

A

Turner’s Syndrome

137
Q

Lymphadema of extremities, cystic hygroma

A

Turner’s Syndrome

MED208 Histopathology (5 decks)

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