Repro 1:2 Thatcher Extra Tidbits

Front 1

What is the inheritance pattern of Cystic Fibrosis? 2

Back 1

- Autosomal recessive
- Pleiotropic Heterogeneity

Front 2

What is the gene mutation for Cystic Fibrosis?

Back 2

CFTR: cystic fibrosis transmembrane regulator

Front 3

Pulmonary degeneration, hypoglycemia, and male sterility are sx of what disease?

Back 3

Cystic Fibrosis (3)

Front 4

What is the inheritance pattern for Sickle Cell Anemia? 2

Back 4

autosomal recessive and point mutation

Front 5

What is the gene mutation for sickle cell anemia?

Back 5

beta-globin

Front 6

hemolytic anemia and painful ischemia are related to what disease?

Back 6

Sickle Cell anemia (2)

Front 7

What is the inheritance pattern for Tay-Sachs?

Back 7

autosomal recessive

Front 8

The gene mutation hexosaminidase alpha subunit causes what disease?

Back 8

Tay-Sachs

Front 9

Neurodegeneration, Seizures, Blindness, Inattentive, and Cherry red spot in retina are sx with what disease?

Back 9

Tay-Sachs (5)

Front 10

What is the inheritance pattern for Phenylketonuria? 2

Back 10

-autosomal recessive
- pleiotropic

Front 11

What is the mutant gene with phenylketonuria?

Back 11

phenylalanine hydroxylase

Front 12

Mental retardation, Hyperphenylalaninemia, Mousy oder, and Seizures are all associated with what disease?

Back 12

Phenylketonuria (4)

Front 13

What is the inheritance pattern for Hurler syndrome?

Back 13

-autosomal recessive
- pleiotrophic

Front 14

The mutant gene: α-L-iduronidase is found in what disease?

Back 14

Hurler Syndrome

Front 15

Mental retardation, Course faces, Skeletal dysplasia, Growth ceases age 3, and Mucopolysaccharide accumulation in lysomes are all found in what disease?

Back 15

Hurler Syndrome (5)

Front 16

What is the inheritance pattern for Xeroderma Pigmentosum? 2

Back 16

- autosomal recessive
- heterogeneity

Front 17

UV specific endonuclease, is associated with...?

Back 17

Xeroderma Pigmentosum

Front 18

Malignant dermal cancer from solar sensitivity is associated with what disease?

Back 18

Xeroderma Pigmentosum (1)

Front 19

What is the inheritance pattern for α-Thalisemias?

Back 19

- autosomal dominant
- heterogeneity

Front 20

The mutation in the alpha globins gene is characteristic of what disease?

Back 20

α-Thalisemias

Front 21

Anemia, Small RBCs, and Hydrops fetalis are all findings in what disease?

Back 21

α-Thalisemias (3)

Front 22

What is the inheritance pattern for β-Thalisemias?

Back 22

- AD
- heterogeneity

Front 23

β-Globins is a mutation in what disease?

Back 23

β-Thalisemias

Front 24

Anemia, Marrow hypertrophy, Bone malformation, and Spleen & liver enlargement are found in what disease?

Back 24

β-Thalisemias (5)

Front 25

What is the inheritance pattern for Marfan Syndrome?

Back 25

- AD
- Pleiotropic

Front 26

Fibrillin-1 is a genetic mutation in what disease?

Back 26

Marfan's syndrome

Front 27

Tall stature, Arachnodactyly, Ectopia lentis, Aortic dilation, and Scoliosis are all found in what disease?

Back 27

Marfan's syndrome (5)

Front 28

What is the inheritance pattern for Familial Hypercholesterolemia ?

Back 28

- AD

Front 29

LDL Receptor mutation is in what disease?

Back 29

Familial Hypercholesterolemia

Front 30

2x plasma cholesterol levels, Heart disease, Atherosclerosis, and Xanthomas are all found in what disease?

Back 30

Familial Hypercholesterolemia

Front 31

What is the inheritance pattern for Myotonic Muscular Dystrophy? 2

Back 31

- AD
- Anticipation

Front 32

Myotonin-Protein Kinase mutations are found in what disease?

Back 32

Myotonic Muscular Dystrophy

Front 33

Muscular degeneration and Myotonia are found in what disease?

Back 33

Myotonic Muscular Dystrophy (2)

Front 34

What is the inheritance pattern for Huntington Disease? 2

Back 34

- AD
- Anticipation

Front 35

What gene is mutated in huntington's disease?

Back 35

Huntington gene

Front 36

Jerky chorea movements, Dementia, Cholinergic & GABA-ergic neuron atrophy are all found in what disease?

Back 36

Huntington Disease

Front 37

What is the inheritance pattern for Achondroplasia? 2

Back 37

- AD
- Pleiotropic

Front 38

Fibroblast Growth Factor Receptor 3 is a mutant gene in what disease?

Back 38

Achondroplasia

Front 39

Short arms & legs, Bow legs, Lumbar lordosis, Large head, and Frontal bossing are found in what disease?

Back 39

Achondroplasia (6)

Front 40

What is the inheritance pattern for Hutchinson-Gilford Progeria?

Back 40

- AD

Front 41

Lamin A (point mutation at splice site) is a mutation found in what disease?

Back 41

Hutchinson-Gilford Progeria

Front 42

Premature aging and Death by age 12 are characteristics of what disease?

Back 42

Hutchinson-Gilford Progeria (2)

Front 43

What is the inheritance pattern for Retinoblastoma? 2

Back 43

- AD
- tumor suppressor

Front 44

RB1 is a mutation for what disease?

Back 44

Retinoblastoma mutation

Front 45

Retinal tumors before age 5, Strabismus, and Increased risk of various cancers later in life are characteristics of what disease?

Back 45

Retinoblastoma (3)

Front 46

What is the inheritance pattern for Neurofibromatosis Type I ?

Back 46

- AD
- Pleiotrophic tumor suppressor

Front 47

Neurofibromin (NFI) => (downregulates ras) and it characteristic of what disease?

Back 47

Neurofibromatosis Type I

Front 48

Neuroblastomas (Benign schwann cell tumors), Café-au-lait spots, Lisch nodules (iris), displasia of sphenoid and long bones are all found in what disease?

Back 48

Neurofibromatosis Type I (5)

Front 49

What is the inheritance pattern for Neurofibromatosis Type II ? 2

Back 49

-AD
- Pleiotrophic Tumor Suppressor

Front 50

What is the mutant gene in Neurofibromatosis Type II ?

Back 50

Schwannomin

Front 51

Vestibular schwannomas (8th cranial nerve tumor), Cataracts, Few neurofibromas or Café-au-lait spots are all found in what disease?

Back 51

Neurofibromatosis Type II (4)

Front 52

What is the inheritance pattern for Neuroblastoma ? 2

Back 52

- gene amplification
- homogeneous staining region

Front 53

NMYC a mutated transcription factor is assoc with what disease?

Back 53

Neuroblastoma

Front 54

Autonomic neuroectodermal tumor (malignant) is found in what disease?

Back 54

Neuroblastoma

Front 55

What is the inheritance pattern of Red Green Color Blindness?

Back 55

X linked recessive

Front 56

The mutant gene opsin occurs in what disease?

Back 56

Red Green Color Blindness

Front 57

What are the sx associated with Red Green Color Blindness?

Back 57

none

Front 58

What is the inheritance pattern for Hemophilia A? 2

Back 58

- X linked recessive
- Heterogeneity

Front 59

What is the mutant gene assoc. w/ Hemophilia A?

Back 59

Factor VIII

Front 60

Deficient clotting, Persistant bleeding, hemorrhage, and Painful degenerative joints are detected in what disease?

Back 60

Hemophilia A (4)

Front 61

What is the inheritance pattern of Duchenne Muscular Dystrophy?

Back 61

X linked recessive

Front 62

Dytrophin Muscular Dystrophy mutant gene?

Back 62

dytrophin

Front 63

Muscular degeneration and Cardiomyopathy are sx found in what disease?

Back 63

Duchenne Muscular Dystrophy

Front 64

Glucose 6-Phosphate Dehydrogenase Deficiency: Inheritance Pattern?

Back 64

- X linked recessive

Front 65

G6PD is a mutant gene assoc with what disease?

Back 65

Glucose 6-Phosphate Dehydrogenase Deficiency

Front 66

Hemolytic anemia is assoc w/ what disease?

Back 66

Glucose 6-Phosphate Dehydrogenase Deficiency

Front 67

Lesch-Nyhan Syndrome

Back 67

- X linked Recessive

Front 68

Hypoxanthine guanine phosphoribosyltransferase is a mutant gene associated w/ what disease?

Back 68

Lesch-Nyhan Syndrome

Front 69

Mental retardation, Self mutilation, and Uncontrollable movements are assoc w/ what disease?

Back 69

Lesch-Nyhan Syndrome

Front 70

Fragile X: inheritance pattern? 2

Back 70

- X linked Dominant
- Anticipation

Front 71

Mutant Gene: FMR-1(an RNA binding protein) is assoc w/ what disease?

Back 71

Fragile X

Front 72

Moderate mental retardation, long face, and ♂ macroorchidism are assoc. with what disease?

Back 72

Fragile X (3)

Front 73

Severe Combined Immuno-Deficiency Syndrome (SCIDS): inheritance pattern? 2

Back 73

- AR X linked recessive
- Heterogeneity

Front 74

adenosine deaminase (ADA) and γC cytokine receptor are mutations with what disease?

Back 74

Severe Combined Immuno-Deficiency Syndrome (SCIDS)

Front 75

Impairment of humoral immune response due to T-cell deficiency (bubble boy) described what disease?

Back 75

Severe Combined Immuno-Deficiency Syndrome (SCIDS)

Front 76

Osteogenesis Imperfecta: Inheritance pattern? 2

Back 76

- AR Autosomal dominant
- heterogeneity (type 1- VII)

Front 77

Collagens mutant genes are associated with what disease? ( COL1A1 and COL 1A2)

Back 77

Osteogenesis Imperfecta

Front 78

Brittle bones, Short stature, Blue eye sclera, and Postpubertal deafness are sx of what disease?

Back 78

Osteogenesis Imperfecta (4)

Front 79

Ehlers-Danlos Syndromes: inhertance pattern? 4

Back 79

- Autosomal recessive or autosomal dominant or x linked recessive
- heterogeneity (types I - X)

Front 80

collagens (COL5A1,5A2, 3A1), lysyl oxidase, and lysyl hydroxylase, MNK (copper utilization) are mutations associated with what disease?

Back 80

Ehlers-Danlos Syndromes mutations (4)

Front 81

Loose skin and joints, Aneurysms, and Atrophic "cigarette paper" scars are sx of what disease?

Back 81

Ehlers-Danlos Syndromes (3)

Front 82

Charcot-Marie-Tooth Disease: inheritance pattern? 5

Back 82

- AR AD XR XD
- heterogeneity sex influenced

Front 83

myelin, lamin, and connexi are mutant genes in what disease?

Back 83

Charcot-Marie-Tooth Disease mutations (3)

Front 84

Neuomuscular degeneration in distal limbs due to demylination occurs in what disease?

Back 84

Charcot-Marie-Tooth Disease Sx (1)

Front 85

Familial Parkinson Disease: inheritance pattern (3)

Back 85

- Autosomal recessive
- autosomal dominant
- heterogeneity

Front 86

α-synuclein and parkins mutations are found in what disease?

Back 86

Familial Parkinson Disease mutations (2)

Front 87

Lewy bodies, Loss of dopaminergic neurons in substantia nigra,Impaired cognition, Rigid muscles, and Tremors are found in what disease?

Back 87

Familial Parkinson Disease has 5 sx

Front 88

Idiopathic Parkinson disease: inheritance pattern? (1)

Back 88

multifactorial

Front 89

α-synuclein and parkins are mutations found in what disease?

Back 89

Idiopathic Parkinson disease has 2 gene mutations.

Front 90

Lewy bodies, Loss of dopaminergic neurons in substantia nigra, Impaired cognition, Rigid muscles, and Tremors are sx found in what disease?

Back 90

Idiopathic Parkinson disease has 5 sx.

Front 91

Alzhemers: inheritance pattern?

Back 91

Multifactorial

Front 92

β-amyloid precursor protein (APP), apolipoprotein ε4, and presenilin-1 or 2 are all found as mutations in what disease?

Back 92

Alzhemers 3 mutations

Front 93

Dementia, Siezures, Amyloid plaques & Neurofibrillary tangles in brain are sx in what disease?

Back 93

Alzhemers 4 sx

Front 94

Diabetes Mellitus: inheritance pattern? 2

Back 94

- mutlifactorial
- autoimmune

Front 95

Hyperglicemia, Ketoacidosis, β cell atrophy, Neuropathy, Retinopathy, and Kidney failure are sx in what disease?

Back 95

Diabetes Mellitus 5 sx

Front 96

Sytemic Lupus: inheritance pattern. 2

Back 96

- multifactorial
- autoimmune

Front 97

Autoimmmune organ failure is present in what disease?

Back 97

Sytemic Lupus 1 sx

Front 98

Leber Optic Neuropathy: inheritance pattern 3

Back 98

- mitochondrial
- heterogeneity
- sex influenced

Front 99

Mutant genes found in what disease: NADH dehydrogenase complex I subunits.

Back 99

Leber Optic Neuropathy 1 mutant gene

Front 100

Blindness, Telangiectatic microangiopathy, and Vascular tortuosity are sx of what disease?

Back 100

Leber Optic Neuropathy 3 Sx

Front 101

Kearn-Sayre Syndrome: inheritance pattern? 2

Back 101

- mitochondrial
- duplication deletion

Front 102

Mutant Gene: oxidative phosphorylation complex genes?

Back 102

Kearn-Sayre Syndrome: 1 mutation

Front 103

Retinal degeneration, Heart block, Short stature, Diabetes, Deafness, and Thyroid disease are sx in what disease?

Back 103

Kearn-Sayre Syndrome 6 sx

Front 104

Triploidy: inheritance pattern. 1

Back 104

euploidy

Front 105

What disease results when there are three complete sets of chromosomes?

Back 105

Triploidy

Front 106

Multiple malformations, Large cystic placenta, and Hydatidiform mole are found in what disease?

Back 106

Triploidy 3 sx

Front 107

Down Syndrome inheritance pattern?

Back 107

aneuploidy

Front 108

What disease does trisomy 21 cause?

Back 108

Down Syndrome mutation (1)

Front 109

Mental retardation, Multiple malformations, and Congenital heart disease are major defects seen in what disease?

Back 109

Down Syndrome (3)

Front 110

Edwards Syndrome: inheritance pattern?

Back 110

aneuploidy

Front 111

What is the gene mutation trisomy 18 seen in?

Back 111

Edwards Syndrome (1) gene mutation

Front 112

Mental retardation, Multiple malformations, 2nd digit overlaps 1st, and Infant mortality are seen in what disease?

Back 112

Edwards Syndrome (5)

Front 113

Patau Syndrome: inheritance pattern?

Back 113

Aneuploidy

Front 114

Trisomy 13 causes what disease?

Back 114

Patau Syndrome 1 gene mutation

Front 115

Mental retardation, Multiple malformations, Central facial defects, and Infant mortality are found in what disease?

Back 115

Patau Syndrome 4 sx

Front 116

Tuner syndrome inheritance pattern? 1

Back 116

Aneuploidy

Front 117

XO, 50% partial monosomies of short arm of X is found in what disease?

Back 117

Turner syndrome 1 gene mutation

Front 118

Undeveloped secondary ♀ characteristics and Fetal lymphedema are seen in what disease?

Back 118

Turner syndrome 2 sx

Front 119

Klinefelter Syndrome inheritance pattern?

Back 119

An

Front 120

Mutant gene XXY causes what disease?

Back 120

Klinefelter Syndrome mutant gene?

Front 121

Feminized male is seen in what disease?

Back 121

Klinefelter Syndrome sx 1

Front 122

47 XYY Syndrome inheritance pattern?

Back 122

An

Front 123

XYY mutant gene causes what syndrome?

Back 123

47 XYY Syndrome 1 mutant gene

Front 124

Little to no malformatios and ADHD are seen in what disease?

Back 124

47 XYY Syndrome, 2 sx

Front 125

47 XXX Syndrome inheritance?

Back 125

An

Front 126

XXX mutation causes what?

Back 126

47 XXX Syndrome, what's the mutation?

Front 127

Little to no malformations are seen in what disease?

Back 127

47 XXX Syndrome, sx 1

Front 128

Cri du Chat inheritance pattern? 2

Back 128

- aberration
- deletion of 5p

Front 129

What disease has a gene mutation of the 5p short arm of chromosome 5?

Back 129

Cri du Chat has 1 mutation

Front 130

Mental retardation, Multiple malformations, and a Cat like cry are common in what disease?

Back 130

Cri du Chat 3 sx

Front 131

Chronic Myelogenous Leukemia: inheritance pattern? 2

Back 131

- Aberration
- translocation

Front 132

t(9q;22q) (abl/bcr fusion) "Philadelphia chromosome"
Is found in what disease?

Back 132

Chronic Myelogenous Leukemia 1 mutation and a common name for it.

Front 133

Leukemia is found in what disease?

Back 133

Chronic Myelogenous Leukemia, 1 sx

Front 134

Burkitt Lymphoma inheritance pattern? 2

Back 134

aberration and translocation

Front 135

t(8q;14q) (c-myc driven by immunoglobulin promoter)
is found in what disease?

Back 135

Burkitt Lymphoma: what is the mutation?

Front 136

lymphoma is the only sx in what disease?

Back 136

Burkitt Lymphoma 1 sx

Front 137

46 XY Females: inheritance pattern

Back 137

- aberration
- deletion X

Front 138

SRY deletion is in what disease?

Back 138

46 XY Females, 1 mutation

Front 139

What is the only disease where the only finding is that the person is female?

Back 139

46 XY Females, 1

Front 140

46 XX Males inheritance pattern? 2

Back 140

aberration and insertion (Y)

Front 141

SRY insertion is a mutation in what disease?

Back 141

46 XX Males, 1 mutation

Front 142

Being male is the only sx in what disease?

Back 142

46 XX Males. 1 sx

Front 143

Prader-Willi Syndrome: inheritance pattern? 2

Back 143

-microdeletion
- epigenic imprinting

Front 144

Paternal deletion, band 15q11-q13, Uniparental disomy 15 are all mutations in what disease?

Back 144

Prader-Willi Syndrome: 3 mutations

Front 145

Mental retardation, Behavoiral adnormalities, and Obesity are found in what syndrome?

Back 145

Prader-Willi Syndrome 3 sx

Front 146

Angelman Syndrome inheritance pattern? 2

Back 146

microdeletion
- epigenic imprinting

Front 147

Maternal deletion, band 15q11-q13, or Ubiquitin-protein ligase E3A gene are found in what disease?

Back 147

Angelman Syndrome 2 mutations

Front 148

Mental retardation, Unprovoked laughter, Wide mouth, and Ataxic movements are found in what disease?

Back 148

Angelman Syndrome 4 sx

Front 149

DiGeorge Syndrome inheritance pattern? 1

Back 149

microdeletion

Front 150

Deletion of band 22q11.2 is found in what disease?

Back 150

Digeorge 1 mutation

Front 151

Thymus hypoplasia, Hypocalcemia, and Conotruncal heart are present in what disease?

Back 151

DiGeorge syndrome, 3 sx

Front 152

Williams Syndrome: inheritance pattern?

Back 152

microdeletion

Front 153

Deletion of band 7q11.2 (elastin gene) is found in what disease?

Back 153

Williams Syndrome - 1 mutation

Front 154

Mental retardation, Multiple malformations, Arterial Stenosus, Loquacious personality, Elfin face, and Musical profiency are sx in what?

Back 154

Williams Syndrome, 6 sx

Front 155

True Hermaphrodites inheritance? 4

Back 155

- aberrations or chimeras
- translocations or embryonic fusions

Front 156

t(X;Y) or mosaics of XX & XY cells are found in what disease?

Back 156

True Hermaphrodites 2 mutations

Front 157

Gonads with both male and female structures (Pseudohermaphrodites-complete gonads (testes or ovaries) incongruent with 2ndary sexual characteristics) are found in what disease?

Back 157

True Hermaphrodites, 1 sx

Front 158

Congenital Adrenal Hyperplasia: inheritance?

Back 158

Autosomal recessive

Front 159

21-hydroxylase mutation is in what?

Back 159

Congenital Adrenal Hyperplasia
1 mutation

Front 160

46XX, Ambiguous genetalia, Ovaries (♀ pseudohermaphrodite) are seen where?

Back 160

Congenital Adrenal Hyperplasia, 3 sx

Front 161

Testicular Feminization Syndrome or Androgen Insensitivity Syndrome inheritance?

Back 161

x linked recessive

Front 162

androgen receptor mutation causes what?

Back 162

Testicular Feminization Syndrome or Androgen Insensitivity Syndrome
1 mutation

Front 163

46XY, ♀ body type, Testicles and (♂ pseudohermaphrodite) are found where?

Back 163

Testicular Feminization Syndrome or Androgen Insensitivity Syndrome, 3 sx