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Cytogenetics > CHAPTER VI: A. GENETIC DISORDERS; B. CYTOGENETIC DISORDERS > Flashcards

CHAPTER VI: A. GENETIC DISORDERS; B. CYTOGENETIC DISORDERS Flashcards

1
Q

Associated defects of Mendelian Disorders

A
  1. Marfan Syndrome
  2. Ehlers-Danlos Syndrome
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2
Q

Associated with defects in receptor proteins

A
  1. Familial Hypercholesterolemia (FH)
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3
Q

Associated with defects in enzymes

A
  1. Lysosomal Storage Diseases
  2. Tay-Sachs Disease
  3. Niemann-Pick Disease
  4. Gaucher’s Disease
  5. Mucopolysaccharidoses
  6. Glycogen Storage Diseases
  7. Alkaptonuria
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4
Q

Associated with defects in proteins that regulate cell growth

A
  1. Neurofibromatosis
  2. Triplet Repeat Mutation Fragile X Syndrome
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5
Q
  1. Neurofibromatosis
A

a) Multifactorial
b) Single Gene Disorders with non-classic inheritance

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6
Q

CYTOGENETIC DISORDERS

A

a) Involving autosomes
b) Involving sex chromosomes
c) Mutations in Mitochondrial genes

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7
Q

a) Involving autosomes

A

Trisomy 21
Trisomy 18
Trisomy 13
Cri-du-Chat

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8
Q

b) Involving sex chromosomes

A

Klinefelter’s Syndrome
XYY Syndrome
Turner’s Syndrome
Hermaphroditism
Pseudohermaphroditism

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9
Q

c) Mutations in Mitochondrial genes

A

Leber’s Hereditary Optic Neuropathy
Prader-Willi Syndrome
Angelman’s Syndrome

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10
Q

Genomic Imprinting

A

Leber’s Hereditary Optic Neuropathy

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11
Q

is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.

A

Genetic disorder

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12
Q

mutation in one gene

A

monogenic disorder

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13
Q

mutations in multiple genes

A

multifactorial inheritance disorder

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14
Q

disease caused by a combination of gene mutations and [?]

A

environmental factors

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15
Q

disease caused by damage to chromosomes

A

changes in the number or structure of entire chromosomes, the structures that carry genes

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16
Q

It is one of the most common inherited disorders of connective tissue.

A

Marfan Syndrome

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17
Q

Autosomal dominant condition

A

Marfan Syndrome

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18
Q

Cause: mutation in the FBN1 gene

A

Marfan Syndrome

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19
Q

are associated with a broad continuum of physical features ranging from isolated features to a severe and rapidly progressive form in newborns.

A

FBN1 mutations

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20
Q

Marfan Syndrome Symptoms

A

Bones
Heart
Lungs
Eyes

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21
Q

Ehlers-Danlos Syndrome Signs and Symptoms

A

Musculoskeletal
Skin
Cardiovascular
Vascular skin conditions
Orthostatic intolerance, Dilation and/or rupture of ascending aorta, Cystic medial necrosis, Varicose veins

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22
Q

Ehlers-Danlos Syndrome Other Signs and Symptoms

A

Orthostatic intolerance, Dilation and/or rupture of ascending aorta, Cystic medial necrosis, Varicose veins

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23
Q

Hyper-flexible joints

A

Musculoskeletal

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24
Q

Unstable joints that are prone to sprain, dislocation, subluxation and hyperextension

A

Musculoskeletal

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25
Q

osteoarthritis

A

Musculoskeletal

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26
Q

Chronic degenerative joint disease

A

Musculoskeletal

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27
Q

Swan neck deformity of the fingers

A

Musculoskeletal

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28
Q

Muscle fatigue that increases with use

A

Musculoskeletal

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29
Q

hypotonia in infancy

A

Musculoskeletal

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30
Q

Osteopenia

A

Musculoskeletal

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31
Q

Stretchy ligaments and tendons

A

Musculoskeletal

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32
Q

Tearing of tendons or muscles

A

Musculoskeletal

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33
Q

Deformities of the spine

A

Musculoskeletal

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34
Q

Myalgia and arthralgia

A

Musculoskeletal

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35
Q

Stretchy skin with a velvety texture

A

Skin

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36
Q

Fragile skin

A

Skin

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37
Q

Easy bruising

A

Skin

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38
Q

Abnormal wound healing and scar formation

A

Skin

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39
Q

Redundant skin folds

A

Skin

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40
Q

Molluscoid pseudotumors

A

Skin

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41
Q

Subcutaneous spheroids

A

Skin

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42
Q

Fatty growths on forearms or shins

A

Skin

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43
Q

Angioplasia

A

Skin

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44
Q

Fragile blood vessels

A

Cardiovascular

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45
Q

Life-threatening carotid-cavernous fistula

A

Cardiovascular

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46
Q

Unpredictable rupture of medium-sized arteries

A

Cardiovascular

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47
Q

Valvular heart disease

A

Cardiovascular

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48
Q

Raynaud’s phenomenon

A

Vascular skin conditions

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49
Q

Livedo reticularis

A

Vascular skin conditions

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50
Q

Autosomal dominant

A

Classical 1 and 2
Vascular 4

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51
Q

Dominant/Recessive

A

Hypermobility 3

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52
Q

Tenascin- X def.

A

Hypermobility 3

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53
Q

Type 3 collagen

A

Vascular 4

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54
Q

Autosomal recessive

A

Kyphoscoliosis 6
Arthrochalasis 7A and 7B

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55
Q

Type 1 collagen

A

Arthrochalasis 7A and 7B

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56
Q

Lysyl hydroxylase def.

A

Kyphoscoliosis 6

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57
Q

COL5A1

A

Classical 1 and 2

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58
Q

COL5A2

A

Classical 1 and 2

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59
Q

COL1A1

A

Classical 1 and 2
Arthrochalasis 7A and 7B

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60
Q

COL3A1

A

Hypermobility 3
Vascular 4

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61
Q

TNX B

A

Hypermobility 3

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62
Q

PLOD1

A

Kyphoscoliosis 6

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63
Q

COL1A1

A

Arthrochalasis 7A and 7B

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64
Q

ADAMTS2

A

Dermatosparaxis C

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65
Q

abnormally longer than normal

A

Bones

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66
Q

dolichostenomelia

A

Bones

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67
Q

arachnodactyly

A

Bones

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68
Q

scoliosis

A

Bones

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69
Q

pectus excavatum

A

Bones

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70
Q

pectus carinatum

A

Bones

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71
Q

high palate

A

Bones

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72
Q

malocclusions

A

Bones

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73
Q

angina pectoris

A

Heart

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74
Q

tachycardia

A

Heart

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75
Q

cystic medial degeneration

A

Heart

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76
Q

aortic dissection

A

Heart

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77
Q

heart murmur

A

Heart

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78
Q

risk of spontaneous pneumothorax

A

Lungs

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79
Q

emphysema

A

Lungs

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80
Q

COPD

A

Lungs

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81
Q

collapsed lung

A

Lungs

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82
Q

sleep apnea

A

Lungs

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83
Q

myopia or hyperopia

A

Eyes

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84
Q

astigmatism

A

Eyes

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85
Q

glaucoma

A

Eyes

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86
Q

cataract

A

Eyes

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87
Q

detachment or tear in the retina

A

Eyes

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88
Q

An inherited condition that causes high levels of LDL cholesterol levels beginning at birth, and heart attacks at an early age.

A

Familial Hypercholesterolemia (FH)

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89
Q

It is caused by a defect on chromosome 19

A

Familial Hypercholesterolemia (FH)

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90
Q

The defect makes the body unable to remove low density lipoprotein from the blood.

A

Familial Hypercholesterolemia (FH)

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91
Q

This results in a high level of LDL in the blood

A

Familial Hypercholesterolemia (FH)

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92
Q

Familial Hypercholesterolemia (FH) Other names:

A

o Type II hyperlipoproteinemia;
o Hypercholesterolemic xanthomatosis;
o Low density lipoprotein receptor mutation

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93
Q

Fatty skin deposits over parts of the hands, elbows, knees, ankles and around the cornea of the eye

A

Familial Hypercholesterolemia (FH)

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94
Q

Fatty skin deposits

A

xanthomas

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95
Q

Cholesterol deposits in the eyelids

A

(xanthelasmas)

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96
Q

A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye.

A

Familial Hypercholesterolemia (FH)

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97
Q

cholesterol deposits in the eye

A

corneal arcus

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98
Q

A. Lateral borders of thickened [?] are shown with arrows.

A

Achilles’ tendons

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99
Q

B: can also occur in the extensor tendons of the hands (shown), feet, elbows and knees.

A

Tendinous xanthomas

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100
Q

C: are cholesterol deposits in the eyelids.

A

Xanthelasmas

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101
Q

D: results from cholesterol infiltration around the corneal rim.

A

Arcus cornealis

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102
Q

Lysosomal Storage Diseases

A
  1. Tay-Sachs Disease
  2. Niemann-Pick Disease
  3. Gaucher’s Disease
  4. Mucopolysaccharidoses
  5. Glycogen Storage Diseases
  6. Alkaptonuria
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103
Q

The disease is named for Warren Tay, a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye.

A

Tay-Sachs Disease

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104
Q

Life-threatening disease of the nervous system passed down through families.

A

Tay-Sachs Disease

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105
Q

occurs when the body lacks hexosaminidase A

A

Tay-Sachs Disease

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106
Q

caused by a defective gene on chromosome 15

A

Tay-Sachs Disease

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107
Q

When both parents carry the defective gene, a child has a 25% chance of developing the disease.

A

Tay-Sachs Disease

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108
Q

The child must receive two copies of the defective gene, one from each parent, in order to become sick

A

Tay-Sachs Disease

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109
Q

The disease is most common among the Ashkenazi

A

Tay-Sachs Disease

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110
Q

Jewish population.

A

Tay-Sachs Disease

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111
Q

Tay-Sachs Disease Other names

A

o GM2 gangliosidosis - Tay-Sachs;
o Lysosomal storage disease - TaySachs disease

112
Q

Deafness

A

Tay-Sachs Disease

113
Q

decreased eye contact

A

Tay-Sachs Disease

114
Q

blindness

A

Tay-Sachs Disease

115
Q

Decreased muscle tone (loss of muscle strength)

A

Tay-Sachs Disease

116
Q

loss of motor skills

A

Tay-Sachs Disease

117
Q

paralysis

A

Tay-Sachs Disease

118
Q

Slow growth and delayed mental and social skills

A

Tay-Sachs Disease

119
Q

Dementia (loss of brain function)

A

Tay-Sachs Disease

120
Q

Increased startle reaction

A

Tay-Sachs Disease

121
Q

Irritability

A

Tay-Sachs Disease

122
Q

Seizures

A

Tay-Sachs Disease

123
Q

an autosomal recessive genetic disorder

A

Tay-Sachs Disease

124
Q

Autosomal means it affects males and females equally and recessive means both parents must be a carrier for the children to be at risk.

A

Tay-Sachs Disease

125
Q

If both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected.

A

Tay-Sachs Disease

126
Q

A primary deficiency of acid sphingomyelinase and the resultant accumulation of sphingomyelin.

A

Niemann-Pick Disease

127
Q

phagocytic cells of spleen, liver, bone, marrow, lymph nodes, lungs are enlarged and vacuolated as a result of the storage of lipids

A

Niemann-Pick Disease

128
Q

stuffed with droplets or particles of the complex lipid, imparting a fine vacuolation or foaminess to the cytoplasm

A

Niemann-Pick Disease

129
Q

manifests itself in infancy with massive visceromegaly and severe neurologic deterioration

A

Niemann-Pick Disease Type A or Classic infantile form

130
Q

no neurologic disorders

A

Niemann-Pick Disease Type B Visceral juvenile form

131
Q

most common form of the disease, subtype with brain complications into C1 and C2

A

Niemann-Pick Disease Type C Subacute/ Juvenile form

132
Q

caused by the mutation in the same gene as type C1, was originally separated from type C to delineate a group of patients sharing a common ancestry with otherwise identical disorders, no longer used

A

Niemann-Pick Disease Type D Nova Scotian Type

133
Q

o lipid histiocytosis
o neuronal cholesterol lipidosis
o neuronal lipidosis
o sphingomyelin lipidosis
o sphingomyelin/cholesterol lipidosis
o sphingomyelinase deficiency

A

Niemann-Pick Disease

134
Q

Nova Scotian type

A

Niemann-Pick Disease Type D

135
Q

rare genetic disorder that is one of a group called lysosomal storage disorders.

A

Gaucher’s Disease

136
Q

It is an inherited disorder that results in the accumulation of fatty molecules called cerebrosides in the body’s organs and tissues

A

Gaucher’s Disease

137
Q

It is caused by a missing or deficient enzyme called ‘glucocerebrosidase’

A

Gaucher’s Disease

138
Q

the gene that would normally tell the body to produce this enzyme is altered

A

Gaucher’s Disease

139
Q

Signs and Symptoms: enlarged liver and spleen, low platelet and hemoglobin counts, problems with bones and joints

A

Gaucher’s Disease

140
Q

Liver and spleen enlargement (hepatosplenomegaly) can occur as the result of an inherited disorder in which the liver cannot process glucocerebroside

A

Gaucher’s disease

141
Q

The buildup of this substance in body tissues can cause severe damage to the central nervous system in infants.

A

Gaucher’s disease

142
Q

group of inherited lysosomal storage disorders

A

Mucopolysaccharidoses

143
Q

abnormal accumulation of certain complex carbohydrates (glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth.

A

Mucopolysaccharidoses

144
Q

These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow.

A

Mucopolysaccharidoses

145
Q

This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body.

A

Mucopolysaccharidoses

146
Q

Signs and symptoms: coarse facial features, short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities

A

Mucopolysaccharidoses

147
Q

rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose

A

Glycogen Storage Diseases

148
Q

is passed down from parents to children (is hereditary). It is most often seen in babies or young children. But some forms may appear in adults.

A

Glycogen Storage Diseases

149
Q

von Gierke disease

A

Type I

150
Q

Most common form of GSD

A

Type I

151
Q

don’t have the enzyme needed to turn glycogen into glucose in the liver

A

Type I

152
Q

Glycogen builds up in the liver.

A

Type I

153
Q

Symptoms often appear in babies around 3 to 4 months old.

A

Type I

154
Q

They may include low blood sugar (hypoglycemia) and a swollen belly because of an enlarged liver

A

Type I

155
Q

rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body.

A

Alkaptonuria

156
Q

Cause: mutation of the homogentisate 1,2dioxygenase (HGD) gene

A

Alkaptonuria

157
Q

Inherited as an autosomal recessive trait

A

Alkaptonuria

158
Q

Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid

A

Alkaptonuria

159
Q

Affected individuals may have dark urine or urine that turns black when exposed to air.

A

Alkaptonuria

160
Q

Dark/ Black urine upon long standing exposure to the air

A

Alkaptonuria

161
Q
  • connective tissue such as cartilage turns blue, grey or black due to the chronic accumulation of homogentisic acid
A

Alkaptonuria-Ochronosis

162
Q

Whites of the eyes (sclera) also become discolored

A

Alkaptonuria

163
Q

Tendonitis

A

Alkaptonuria

164
Q

Arthritis and ochronotic arthropathy

A

Alkaptonuria

165
Q

rare genetic disorder that causes typically benign tumors of the nerves and growths in other parts of the body

A

Neurofibromatosis

166
Q

caused by mutations in the gene that controls production of a protein called neurofibromin

A

Neurofibromatosis type I (NF1)

167
Q

manifests itself at birth or during early childhood

A

Neurofibromatosis type I (NF1)

168
Q

manifests itself at birth or during early childhood

A

Neurofibromatosis type I (NF1)

169
Q

results from mutations in a different tumor-suppressing gene (neurofibromin 2, merlin)

A

Neurofibromatosis type II (NF2)

170
Q

may appear during childhood, adolescence or early adulthood

A

Neurofibromatosis type II (NF2)

171
Q

characterized by benign tumors of the nerves that transmit sound impulses and balance signals from the inner ears to the brain

A

Neurofibromatosis type II (NF2)

172
Q

more frequently diagnosed in adults aged 30 and older

A

Schwannomatosis

173
Q

characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females

A

Triplet Repeat Mutation – Fragile X Syndrome

174
Q

caused by an abnormality (mutation) in the FMR1 gene

A

Triplet Repeat Mutation – Fragile X Syndrome

175
Q

is a gene located on the X chromosome that produces a protein called FMRP needed for proper cell function

A

FMR1

176
Q

large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes

A

Triplet Repeat Mutation – Fragile X Syndrome

177
Q

flat feet, frequent ear infections, low muscle tone, a long narrow face, high arched palate, dental problems, crossed eyes (strabismus) and heart problems including mitral valve prolapse

A

Triplet Repeat Mutation – Fragile X Syndrome

178
Q

Discovered in 1966 by Langdon Down

A

Trisomy 21

179
Q

It is the only human autosomal trisomy in which a significant number of individuals survive longer than a year past birth.

A

Trisomy 21

180
Q

Mental retardation

A

Trisomy 21

181
Q

Multiple physical abnormalities such as heart defects

A

Trisomy 21

182
Q

affected children are small in stature because of delayed maturation of the skeletal system

A

Trisomy 21

183
Q

Poor muscle tone resulting in a characteristic facial appearance

A

Trisomy 21

184
Q

Shortened life span

A

Trisomy 21

185
Q

Most cases are caused by non-disjunction

A

Downs syndrome

186
Q

Failure of homologous chromosomes to separate in meiosis

A

non-disjunction

187
Q

Nondisjunction of [?] is more likely to happen in oogenesis than in spermatogenesis, and so the abnormal gamete in Down syndrome is usually the egg

A

chromosome 21

188
Q

Edwards Syndrome

A

Trisomy 18

189
Q

Patau Syndrome

A

Trisomy 13

190
Q

Rare conditions associated with major developmental abnormalities

A

Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome)

191
Q

Affected infants can survive for only a few days or weeks.

A

Trisomy 18 (Edwards Syndrome) and Trisomy 13 (Patau Syndrome)

192
Q

In 1960, Klaus Patau and his associated observed an infant with severe developmental malformations with a karyotype of 47 chromosomes

A

Trisomy 13

193
Q

average survival: Less than six months

A

Trisomy 13

194
Q

Majority are male

A

Trisomy 13

195
Q

Affected infants are not mentally alert

A

Trisomy 13

196
Q

Are thought to be deaf

A

Trisomy 13

197
Q

Characteristically have a harelip, clef palate

A

Trisomy 13

198
Q

Demonstrate polydactyly

A

Trisomy 13

199
Q

Autopsy reveals congenital malformation of most organ systems

A

Trisomy 13

200
Q

Condition indicative of abnormal developmental events occurring as early as 5-6 weeks of gestation.

A

Trisomy 13

201
Q

In 1960, John H. Edwards and his colleagues reported on an infant trisomic for a chromosome in the E group

A

Trisomy 18

202
Q

Survival: Less than 4 months

A

Trisomy 18

203
Q

Symptoms: Congenital heart defects, growth retardation, dysmorphic features, facial clefts, spina bifida, severe developmental delay

A

Trisomy 18

204
Q

Smaller than the average newborn

A

Trisomy 18

205
Q

Skulls are elongated in an anterior-posterior direction

A

Trisomy 18

206
Q

Ears are set low and malformed

A

Trisomy 18

207
Q

Webbed neck

A

Trisomy 18

208
Q

Congenital dislocation of hips

A

Trisomy 18

209
Q

Receding chin

A

Trisomy 18

210
Q

Due to a missing piece (deletion) of a specific part of chromosome 5 known as the ‘p’ arm.

A

Cri-du-Chat

211
Q

In general, the severity of the symptoms is determined by the size and location of the deletion on chromosome 5.

A

Cri-du-Chat

212
Q

This deletion occurs very early in the development of an embryo and cri du chat syndrome is usually not inherited in families.

A

Cri-du-Chat

213
Q

present from birth and affects growth and development

A

Cri-du-Chat

214
Q

Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance.

A

Cri-du-Chat

215
Q

Cat-like cry

A

Cri-du-Chat

216
Q

Small head size (microcephaly)

A

Cri-du-Chat

217
Q

Characteristic facial features

A

Cri-du-Chat

218
Q

Hypotonia

A

Cri-du-Chat

219
Q

Intellectual disability

A

Cri-du-Chat

220
Q

Global developmental delay

A

Cri-du-Chat

221
Q

Behavior issues

A

Cri-du-Chat

222
Q

Growth delay

A

Cri-du-Chat

223
Q

Diagnosis: based on the clinical examination, symptoms and confirmed by the results of genetic testing.

A

Cri-du-Chat

224
Q

Treatment is focused on managing the symptoms.

A

Cri-du-Chat

225
Q

47, XXY

A

Klinefelter’s Syndrome

226
Q

Males

A

Klinefelter’s Syndrome

227
Q

Tall, do not undergo normal sexual maturation, are sterile, and in some cases have enlargement of the breasts.

A

Klinefelter’s Syndrome

228
Q

Mild mental impairment is common

A

Klinefelter’s Syndrome

229
Q

rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome.

A

XYY Syndrome

230
Q

Affected individuals are usually very tall.

A

XYY Syndrome

231
Q

Many experience severe acne during adolescence.

A

XYY Syndrome

232
Q

Additional symptoms may include learning disabilities and behavioral problems such as impulsivity.

A

XYY Syndrome

233
Q

Intelligence is usually in the normal range, although IQ is on average 10-15 points lower than siblings.

A

XYY Syndrome

234
Q

Synonyms of XYY

A

XYY Syndrome

235
Q

47, XYY

A

XYY Syndrome

236
Q

Jacob’s syndrome

A

XYY Syndrome

237
Q

XYY karyotype

A

XYY Syndrome

238
Q

YY syndrome

A

XYY Syndrome

239
Q

45, X

A

Turner’s Syndrome

240
Q

Monosomy of the X chromosome in females

A

Turner’s Syndrome

241
Q

Phenotypically female but are short in stature and do not exhibit sexual maturation.

A

Turner’s Syndrome

242
Q

Mental abilities are typically within the normal range.

A

Turner’s Syndrome

243
Q

the condition of having both male and female reproductive organs

A

Hermaphroditism

244
Q

Conditions that involve discrepancies between external genitalia and internal reproductive organs are described by the term intersex.

A

Hermaphroditism

245
Q

Intersex conditions are sometimes referred to as disorders of sexual development (DSDs).

A

Hermaphroditism

246
Q

True gonadal intersex or True hermaphroditism- individual has both ovarian and testicular tissue.

A

Hermaphroditism

247
Q

The ovarian and testicular tissue may be separate, or the two may be combined in what is called an

A

ovotestis

248
Q

Affected individuals have sex chromosomes showing male-female [?] (where one individual possesses both the male XY and female XX chromosome pairs).

A

mosaicism

249
Q

a condition in which the individual has a single chromosomal and gonadal sex but combines features of both sexes in the external genitalia, causing doubt as to the true sex.

A

Pseudohermaphroditism

250
Q

refers to an individual with ovaries but with secondary sexual characteristics or external genitalia resembling those of a male

A

Female pseudohermaphroditism

251
Q

also known as adrenogenital syndrome, is a common cause of female pseudohermaphroditism.

A

Congenital adrenal hyperplasia

252
Q

refers to individuals whose gonads are testes but whose secondary sexual characteristics or external genitalia resemble those of a female.

A

Male pseudohermaphroditism

253
Q

is rare and almost always results from autosomal recessive genetic defects (defects that must be inherited from both parents in order to be expressed).

A

Male pseudohermaphroditism

254
Q

condition characterized by vision loss. Vision loss is typically the only symptom of LHON

A

Leber’s Hereditary Optic Neuropathy

255
Q

characterized by bilateral, painless, and almost sudden vision failure that develops in young adulthood (around 20 to 30 years of age).

A

Leber’s Hereditary Optic Neuropathy

256
Q

Blurring and clouding of vision (usually the first symptoms) affecting the central visual field

A

Leber’s Hereditary Optic Neuropathy

257
Q

Severe loss of visual acuity (sharpness of vision) and color vision over time

A

Leber’s Hereditary Optic Neuropathy

258
Q

Loss of ability to complete visual tasks such as reading, driving, and recognizing faces

A

Leber’s Hereditary Optic Neuropathy

259
Q

A growing, dense central scotoma (blind spot) seen during visual field testing

A

Leber’s Hereditary Optic Neuropathy

260
Q

Development of optic atrophy

A

Leber’s Hereditary Optic Neuropathy

261
Q

are genetic disorder that results in a number of physical, mental and behavioral problems.

A

Prader-Willi Syndrome

262
Q

Caused by a defect on chromosome 15 disrupts the normal functions of the hypothalamus

A

Prader-Willi Syndrome

263
Q

A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age.

A

Prader-Willi Syndrome

264
Q

Infants: Poor muscle tone, Distinct facial features, Poor sucking reflex, Generally poor responsiveness, Underdeveloped genitals

A

Prader-Willi Syndrome

265
Q

Early childhood to adulthood: Food craving and weight gain, Underdeveloped sex organs, Poor growth and physical development, Cognitive impairment, Delayed motor development, Speech problems, Behavioral problems, Sleep disorders.

A

Prader-Willi Syndrome

266
Q

rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities

A

Angelman’s Syndrome

267
Q

absence or near absence of speech

A

Angelman’s Syndrome

268
Q

inability to coordinate voluntary movements (ataxia)

A

Angelman’s Syndrome

269
Q

tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling

A

Angelman’s Syndrome

270
Q

Ataxia

A

Angelman’s Syndrome

271
Q

hold their arms up with the wrists and elbows bent and may flap their hands repeatedly when walking or excited

A

Angelman’s Syndrome

272
Q

hypotonia of the trunk

A

Angelman’s Syndrome

273
Q

hypertonia of the arms and legs

A

Angelman’s Syndrome

274
Q

hyperreflexia

A

Angelman’s Syndrome

275
Q

unprovoked, prolonged laughter and smiling

A

Angelman’s Syndrome

276
Q

easily excited, hypermotoric and hyperactive

A

Angelman’s Syndrome

Cytogenetics (11 decks)

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