Xxx - Bchm Ii

Front 1

GENETIC TERM

- Blood groups (A, B, AB)

Back 1

- Codominance

Front 2

GENETIC TERM

- 2 patients with NF1 have varying SEVERITY of their disease

Back 2

- Variable Expression

Front 3

GENETIC TERM

- Not all individuals with a mutant genotype show the mutant phenotype

Back 3

- Incomplete Penetrance

Front 4

GENETIC TERM

- PKU causes many seemingly unrelated symptoms ranging from MR to albinism.

Back 4

- Pleiotropy

Front 5

GENETIC TERM

- 1 gene has >1 effect on an individual's phenotype

Back 5

- Pleiotropy

Front 6

Occurs when a patient inherits/develops a mutation on a TUMOR SUPPRESSOR Gene, then the complementary allele must be deleted/mutated before CA develops

Back 6

- Loss of Heterozygosity

Front 7

GENETIC TERM

- give example of Loss of Heterozygosity

Back 7

- Retinoblastoma

Front 8

GENETIC TERM

- Loss of Heterozygosity occurs with what type of genes?

- Loss of Heterozygosity does NOT occur with what genes?

Back 8

- Tumor suppressor genes

- Oncogenes

Front 9

Heterozygote produces NON-FUNCTIONAL, ALTERED PROTEIN that will ALSO prevent the normal gene product from functioning

Back 9

Dominant Negative Mutation

Front 10

GENETIC TERM

- Dominant Negative Mutation exerts what type of effect?

Back 10

- Dominant effect

Front 11

Heterozygous mutation gene product makes a nonfunctional, mutated protein factor that can still bind DNA and prevent wild-type factor from binding

Back 11

Dominant Negative effect

Front 12

GENETIC TERM

- Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance alone.

Back 12

- Linkage disequilibrium

Front 13

GENETIC TERM

- Linkage disequilibrium is measured in what groups?

Back 13

- Population groups
(not families)

(often varies in different populations)

Front 14

GENETIC TERM

- when a disease is NOT carried by parent's somatic cells

Back 14

- Germ-line Mosaicism

Front 15

GENETIC TERM

- Lyonization is what?
- Lyonization is an example of what genetic manifestation?

Back 15

- random X-inactivation in females

- mosaicism

Front 16

GENETIC TERM

- Mutations at different loci produce the same phenotype

Back 16

- Locus heterogeneity

Front 17

GENETIC TERM

- 3 diseases causing Marfanoid habitus
- this is an example of?

Back 17

- Marfan
- MEN 2B
- Homocystinuria

- Locus Heterogeneity

Front 18

GENETIC TERM

- Albinism is also an example of this genetic manifestation

Back 18

- Locus heterogeneity

Front 19

GENETIC TERM

- Presence of BOTH normal & mutated MITOCHONDRIAL DNA, resulting in VARIABLE EXPRESSION

Back 19

- Heteroplasmy

Front 20

GENETIC TERM

- Offspring recieves 2 copies of chromosomes from 1 parent and none from the other parent

Back 20

Uniparental disomy

Front 21

Hardy-Weinberg Genetics

- Disease Prevalence equation

Back 21

p^2 + 2pg + q^2 = 1

Front 22

Hardy-Weinberg Genetics

- Allele Prevalence equation

Back 22

p + q = 1

Front 23

Hardy-Weinberg Genetics

- Heterozygote Prevalence equation

Back 23

2pq

Front 24

Hardy-Weinberg Genetics

- Prevalence of XLD in males

- Prevalence of XLD in females

Back 24

q

q^2

Front 25

Hardy-Weinberg Genetics

- assumes what 4 things for it to be true

Back 25

- no Mutation
- no Selection
- no Migration

- Random Mating

Front 26

IMPRINTING

- 1 allele is active & other is inactivated/imprinted how?

- disease occurs if what occurs?

Back 26

- methylation

- active allele is deleted
(microdeletion?)

Front 27

@ single locus, 1 allele is inactivated/imprinted, while the normally active Paternal allele is Deleted

Back 27

Prader-Willi syndrome

Front 28

@ single locus, 1 allele is inactivated/imprinted, while the normally active Maternal allele is Deleted

Back 28

Angelman's syndrome

Front 29

Both Prader-Willi & Angelman's syndrome are due to inactivation or deletion of genes on what chromosome?

Back 29

chromosome 15

Front 30

Besides imprinting, Prader-Willi & Angelman's syndrome can also occur via what genetic manifestation?

Back 30

Uniparental disomy

Front 31

Back 31

Autosomal Dominant

Front 32

Back 32

Autosomal Recessive

Front 33

Back 33

X-Linked Recessive

Front 34

Back 34

X-Linked Dominant

Front 35

Back 35

Mitochondrial Inheritance

Front 36

INHERITANCE

- Clinically presents in both sexes AFTER PUBERTY and often due to defects in STRUCTURAL Genes

Back 36

Autosomal Dominant

Front 37

INHERITANCE

- Clinically presents in CHILDHOOD and often due to ENZYME DEFICIENCY

Back 37

Autosomal Recessive

Front 38

INHERITANCE

- usually seen in only 1 generation

Back 38

Autosomal Recessive

Front 39

INHERITANCE

- Sons of Heterozygous Mothers have 50% chance of being affected.

Back 39

X-Linked Recessive

Front 40

INHERITANCE

- No male-to-male transmission

(but mainly seen in males w/ greater severity - from affected mother)

Back 40

X-Linked Recessive

Front 41

INHERITANCE

- ALL FEMALES of affected FATHER are diseased

- what about the children of affected mother?

Back 41

X-Linked Dominant

- both gender offspring may be affected

Front 42

INHERITANCE

- ALL OFFSPRING of affected mother are affected

Back 42

Mitochondrial Inheritance

Front 43

INHERITANCE

- In mitochondrial expression, variable expression is seen due to?

Back 43

- Heteroplasmy

Front 44

INHERITANCE

- X-Linked inheritance primarily affecting males

- X-Linked inheritance affecting both genders from either both parents

Back 44

- XLR

- XLD

Front 45

INHERITANCE

- Hypophosphatemic Rickets inheritance pattern?

Back 45

X-Linked Dominant

Front 46

HYPOPHOSPHATEMIC RICKETS

- aka?
- inheritance pattern?

Back 46

- Vitamin D-Resistant Rickets

- XLD

Front 47

HYPOPHOSPHATEMIC RICKETS

- results in what pathophysiology?
- where does pathophysiology occur?

Back 47

- Increased Phosphate Wasting
(hence hypo-phospha-)

- @ Proximal Tubule

Front 48

Leber's Hereditary Optic Neuropathy (LHON)

- Acute vision effects?
- due to what pathophysiology?

Back 48

Acute Central Vision Loss

Degeneration of Retinal
- Ganglion cells
- Axons

Front 49

ACHONDROPLASIA

- Inheritance pattern?
- Etiology?

Back 49

- AD

- Cell signaling defect of FGFR 3

Front 50

ADPKD vs ARPKD

- which one involves BILATERAL kidney enlargement & cysts?

Back 50

- ADPKD

Front 51

ADPKD vs ARPKD

- which one involves infantile form?

Back 51

- ARPKD

Front 52

ADPKD vs ARPKD

- etiology (90%) involves what gene?
- gene is located where?

Back 52

- APKD1

- chromosome 16
(polycystic kidney = 16 letters)

Front 53

Which Autosomal Dominant disease is associated with advanced Paternal Age?

Back 53

- Achondroplasia

Front 54

Which Autosomal Dominant disease is associated with Berry Aneurysms (as well as MVP)?

Back 54

- ADPKD

Front 55

FAMILIAL ADENOMATOUS POLYPOSIS

- FAP manifests polyps where & when?

Back 55

- Colon covered with polyps after Puberty

Front 56

FAMILIAL ADENOMATOUS POLYPOSIS

- FAP etiology involves what gene?
- FAP involved gene is located on what chromosome?

Back 56

- APC gene

- Chromosome 5
(polyp = 5 letters)

Front 57

FAMILIAL ADENOMATOUS POLYPOSIS

- FAP prognosis (unless....?)

Back 57

- advances to CA unless resected

Front 58

FAMILIAL HYPERCHOLESTEROLEMIA

- Hyperlipidemia Type ?

Back 58

- type IIA

Front 59

FAMILIAL HYPERCHOLESTEROLEMIA

- what plasma levels are seen?
- why (etiology?)

Back 59

- LDL elevated

- defective or absent LDL receptors

Front 60

FAMILIAL HYPERCHOLESTEROLEMIA

- Cholesterol levels

Back 60

Heterozygotes (1:500) = 300 mg/dL

Homozygotes (rare) = 700+ mg/dL

Front 61

FAMILIAL HYPERCHOLESTEROLEMIA

- what conditions occur early in life?

Back 61

- Atherosclerosis (early in life)

- MI (before the age of 20)

Front 62

FAMILIAL HYPERCHOLESTEROLEMIA

- Inheritance pattern

Back 62

- AD

Front 63

HEREDITARY HEMORRHAGIC TELANGIECTASIA

- aka?

Back 63

- Osler-Weber-Rendu Syndrome

Front 64

HEREDITARY HEMORRHAGIC TELANGIECTASIA

- Inherited disorder of what structures?
- Associated Symptoms?

Back 64

- Blood Vessels

(TEAS)
- Telangiectasia
- Epistaxis (recurrent)
- AVM
- Skin discoloration

Front 65

FAMILIAL ADENOMATOUS POLYPOSIS

- Inheritance pattern

Back 65

- AD

Front 66

HEREDITARY SPHEROCYTOSIS

- Spheroid RBC's due to what defect?
- causes what type of anemia?

Back 66

- Spectrin or Ankyrin defect

- Hemolytic anemia
(microcytic hyperchromatic anemia)

Front 67

HEREDITARY SPHEROCYTOSIS

- inheritance pattern?

Back 67

- AD

Front 68

HEREDITARY SPHEROCYTOSIS

- lab results
(for Hb, Reticulocytes, MCV, MCHC)

Back 68

- Decreased Hb (hemolytic anemia)
- Increased Reticulocytes

- Decreased MCV (microcytic)
- Increased MCHC (hyperchromatic)

Note: MCHC = MCH / MCV

Front 69

HEREDITARY SPHEROCYTOSIS

- Treatment?

Back 69

- Splenectomy is curative

Front 70

HEREDITARY SPHEROCYTOSIS

- Physical exam would show what?

Back 70

- Splenomegaly

Front 71

HUNTINGTON'S DISEASE

- Inheritance pattern

Back 71

- AD

Front 72

HUNTINGTON'S DISEASE

- Atrophy of what?

Back 72

- Caudate nucleus

Front 73

HUNTINGTON'S DISEASE

- Neurotransmitter changes?

Back 73

(CAG = Crumbling ACh & GABA)

Decreased ACh
Decreased GABA

Front 74

HUNTINGTON'S DISEASE

- what is the Trinucleotide repeat?
- chromosome location?

Back 74

(CAG)n

Chromosome 4
(hunt 4 CAGed animals)

Front 75

MARFAN'S SYNDROME

- mutation of what gene?

Back 75

- Fibrillin gene mutation

Front 76

MARFAN'S SYNDROME

- type of Necrosis seen & where?
- necrosis leads to?

Back 76

- Cystic Medial Necrosis (of Aorta)

- Aortic imcompetence
- Dissecting Aortic Aneurysm

Front 77

MEN Syndromes

- Inheritance pattern
- characterized by familial Tumors of?

Back 77

- AD

- Endocrine glands
(including adrenal medulla, thyroid, parathyroid, pituitary, & pancreas)

Front 78

Which proto-oncogene is associated with some MEN Syndromes?

List the MEN syndromes associated with the above proto-oncogenes

Back 78

- ret gene

- MEN 2A
- MEN 2B

Front 79

NEUROFIBROMATOSIS TYPE I

- PE findings on eye? (describe it)

- Tumors associated?

Back 79

- Lisch nodules
(Pigmented Iris Hamartomas)

- optic pathway Gliomas
(also other neural tumors seen)

Front 80

NEUROFIBROMATOSIS

- give an example of skeletal disorders?

Back 80

- Scoliosis

Front 81

NEUROFIBROMATOSIS

- Inheritance pattern

Back 81

- AD

Front 82

NEUROFIBROMATOSIS

- NF1 gene is located where?
- NF2 gene is located where?

Back 82

- 17 (long arm)

- 22

Front 83

NEUROFIBROMATOSIS TYPE II

- PE findings on eye? (describe it)

- Tumors associated?

Back 83

- Juvenile CATARACTS

- Bilateral Acoustic Schwannomas

Front 84

TUBEROUS SCLEROSIS

- Skin manifestations?
- Eye manifestations?

Back 84

- Hypopigmented "Ash Leaf" spots

- Hamartomas (cortical/retinal)

Front 85

TUBEROUS SCLEROSIS

- Organ manifestation? x3

Back 85

Renal
- Angiomyolipomas
- Cysts

Cardiac Rhabdomyomas

Front 86

TUBEROUS SCLEROSIS

- CNS symptoms? x2
- increased incidence of what CNS tumor?

Back 86

- MR
- Seizures

- Astrocytoma

Front 87

TUBEROUS SCLEROSIS

- Inheritance pattern?

Back 87

- AD

Front 88

Genetic manifesting associated with Tuberous Sclerosis:

A.) Pleiotropy
B.) Incomplete Penetrance
C.) Variable Expression
D.) Locus Heterogeneity

Back 88

B.) Incomplete Penetrance

&

C.) Variable Expression

Front 89

VON-HIPPEL LINDAU

- inheritance pattern?

Back 89

- AD

Front 90

VON-HIPPEL LINDAU

- what gene is involved?
- what kind of gene is it?
- which chromosome is the gene on?

Back 90

- VHL

- Tumor Suppressor

- Chromosome 3 (3p)
(VHL = 3 letters)

Front 91

VON-HIPPEL LINDAU

- Primary type of CNS Tumor?
- where is the tumor located?

Back 91

- HemangioBLASTOMA

- Retina
- Cerebellum
- Medulla

Front 92

VON-HIPPEL LINDAU

- What non-CNS tumor is associated with over half of VHL patients?

- What is unique about this tumor?

Back 92

- Renal Cell Carcinoma

- Bilateral

Front 93

VON-HIPPEL LINDAU

- mutation of VHL causes constitutive expression of what?

- mutation of VHL causes activation of what growth factor?

Back 93

- HIF (transcription factor)

- Angiogenic growth factors

Front 94

ALBINISM

- Inheritance pattern

Back 94

- AR

Front 95

CYSTIC FIBROSIS

- inheritance pattern

Back 95

- AR

Front 96

CYSTIC FIBROSIS

- mutated gene?
- what type of mutation occurs there?
- located on what chromosome?

Back 96

- CFTR

- Deletion (of Phe 508)

- Chromosome 7
(tyler was 7 years old)

Front 97

CYSTIC FIBROSIS

- Physical Exam findings on Newborns
- Physical Exam findings in Infancy

Back 97

- Meconium Ileus

- Failure to Thrive

Front 98

CYSTIC FIBROSIS

- mutation causes abnormal protein folding, resulting in ________ before reaching _________

Back 98

- Degradation of Cl- channels

- Cell Surface

Front 99

CYSTIC FIBROSIS

- Deficiencies?

Back 99

- Fat Soluble Vitamin Deficiency

(K, A, D, E)

Front 100

CYSTIC FIBROSIS

- what condition only occurs in males?
- why?

Back 100

- Infertility

- Absence of vas deferens (bilateral)

Front 101

CYSTIC FIBROSIS

- common microorganisms associated with CF recurrent pulmonary infections x2

Back 101

- S. Aureus (MRSA?)

- Pseudomonas spp

Front 102

CYSTIC FIBROSIS

- Diagnostic Test & Results

Back 102

- Sweat test

- Increased Cl- ions (in sweat)

Front 103

CYSTIC FIBROSIS

- Treatment?
- Tx for what purpose?
- Tx MOA on molecular level?

Back 103

N-Acetylcysteine

Loosen up mucous plugs

Cleaves Disulfide Bonds
(within mucous glycoproteins)

Front 104

GLYCOGEN STORAGE DISEASES

- Inheritance pattern (for all of them)

Back 104

- AR

Front 105

HEREDITARY HEMOCHROMATOSIS

- Inheritance pattern

Back 105

- AR

Front 106

MUCOPOLYSACCHARIDOSES

- Inheritance pattern (for all of them)

Back 106

- AR (except for Hunter's - XR)

Front 107

PHENYLKETONURIA

- Inheritance pattern

Back 107

- AR

Front 108

THALASSEMIAS

- Inheritance pattern (for all of them)

Back 108

- AR

Front 109

SICKLE CELL ANEMIA

- Inheritance pattern

Back 109

- AR

Front 110

SPHINGOLIPIDOSES

- Inheritance pattern (for all of them)

Back 110

- AR (except for Fabry's - XR)

Front 111

Major Clues for XLR

- what family member usually has it?
- which gender gets it?
- runs on which side of the family?

Back 111

"Maternal Uncle" or Maternal Grandpa"

Only MALES get it

Runs on Mom's side of the family

Front 112

X-LINKED RECESSIVE DISEASES

- Carriers are usually?
- Why are carriers rarely ever affected?

Back 112

- Females

- Due to Lyonization
(random inactivation of X-chromosome on each cell)

Front 113

X-LINKED RECESSIVE DISEASES

- List them x11

Back 113

(Be Wise - ABCDEFGH)
- Bruton's Agammaglobulinemia
- Wiskott-Aldrich

- Alport's syndrome (IV)
- Bleeding Hemophilia A & B
- CGD (NADPH Oxidase Def)
- Duchenne's & Becker's MD
- Eye Albinism
- Fabry's (alpha-Galactosidase)
- G6PD Deficiency
- Hunter's (Iduronidate Sulfatase)

Front 114

MUSCULAR DYSTROPHY

- Inheritance pattern?

Back 114

- XLR

(for both Duchenne & Beckers)

Front 115

DUCHENNE'S MUSCULAR DYSTROPHY

- DMD mutated gene?
- What type of mutation?
- Mutation causes what effect on gene.

Back 115

- Dystrophin gene

- Frameshift Mutation

- Deleted Dystrophin gene in entirety

Front 116

BECKER'S MUSCULAR DYSTROPHY

- BMD mutated gene?
- What type of mutation?
- Mutation causes what effect on gene.

Back 116

- Dystrophin gene

- Mutated gene

- Mutated gene

Front 117

MUSCULAR DYSTROPHY

- Dystrophin function
- Dystrophin function primarily on what tissues?

Back 117

- anchors muscle fibers

- Skeletal muscle
- Cardiac muscle

Front 118

MUSCULAR DYSTROPHY

- Diagnostic Tests & Results

Back 118

- Increased CPK

- Muscle Biopsy

Front 119

FRAGILE-X SYNDROME

- what gene is associated?

Back 119

- FMR-1 gene

Front 120

FRAGILE-X SYNDROME

- what is enlarged? x3

Back 120

- Jaw (macrognathia)
- Ears (also everted)
- Testes (macro-orchidism)

(also long face, MR, MVP)

Front 121

TRINUCLEOTIDE REPEATS

- Fragile X syndrome

Back 121

(Can't Grab Gonads)

- CGG

Front 122

TRINUCLEOTIDE REPEATS

- Huntington's Dz

Back 122

(Hunt 4 CAGed animals)

- CAG

Front 123

TRINUCLEOTIDE REPEATS

- Myotonic Dystrophy

Back 123

(myo - T - onic)

- CTG

Front 124

TRINUCLEOTIDE REPEATS

- Freidrich's Ataxia

Back 124

(G-uess A - taxi - A)

- GAA

Front 125

TRINUCLEOTIDE REPEATS

- Trinucleotide repeats expands when?

Back 125

- in Females only

Front 126

Renal Manifestation in:

- VHL
- Tuberous Sclerosis

Back 126

- Bilateral Renal Cell Carcinoma

- Renal Angiomyolipoma

Front 127

TRISOMY

- Down's syndrome

Back 127

Trisomy 21

Front 128

TRISOMY

- Edward's syndrome

Back 128

Trisomy 18

Front 129

TRISOMY

- Patau's syndrome

Back 129

Trisomy 13

Front 130

DOWN SYNDROME

- primary GI symptom

Back 130

- Duodenal Atresia

Front 131

DOWN SYNDROME

- primary Heart Dz (specify type)

Back 131

- CHD

(Septum Primum-type ASD)

Front 132

DOWN SYNDROME

- primary CV disease

Back 132

- Atherosclerosis

Front 133

DOWN SYNDROME

- primary CA

Back 133

- ALL

Front 134

DOWN SYNDROME

- Pregnancy Quad Screen results

Back 134

Decreased Estriol

Decreased Alpha Feto Protein
Increased HCG
Increased Inhibin A

Front 135

DOWN SYNDROME

- Ultrasound shows what?

Back 135

- increased Nuchal Rigidity

Front 136

DOWN SYNDROME

- 95% of cases caused by?
- 4% of cases caused by?
- 1% of cases caused by?

Back 136

- Meiotic Nondisjunction

- Robertsonian Translocation

- Mosaicism

Front 137

DOWN SYNDROME

- which of the 3 causes of Down's is associated with advanced maternal age?

Back 137

- Meiotic Nondisjunction

(robertsonian translocation is not associated with maternal age)

Front 138

EDWARD'S SYNDROME

- List the common unique signs & symptoms. x3

Back 138

(edwards.com)

- Clenched Fist
- Occiput prominence
- Micrognathia

Front 139

PATAU'S SYNDROME

- List the common unique signs & symptoms. x5

Back 139

- Microcephaly
- Microphthalmia

- cleft lip / Palate
- holoProsencephaly
- Polydactyly

Front 140

ROBERTSONIAN TRANSLOCATION

- which chromosomes are mostly associated?

Back 140

13, 14, 15, 21, & 22

Front 141

ROBERTSONIAN TRANSLOCATION

- which chromosomal arms fuse at the centromere?

- which chromosomal arms are lost?

Back 141

- Long arms

- Short arms

Front 142

ROBERTSONIAN TRANSLOCATION

- what type of translocation does NOT cause any abnormal phenotype?

Back 142

- Balanced Translocation

Front 143

ROBERTSONIAN TRANSLOCATION

- which Trisomy is NOT associated with Robertsonian Translocation?

Back 143

- Edward's syndrome (Trisomy 18)

Front 144

CRI-DU-CHAT

- mutation on which chromosome?
- what type of mutation occurs?

Back 144

- Chromosome 5p (short arm)

- Microdeletion

Front 145

WILLIAMS SYNDROME

- mutation on which chromosome?
- what type of mutation occurs?

Back 145

- Chromosome 7 (long arm)

- Microdeletion

Front 146

WILLIAMS SYNDROME

- microdeleted region in Williams syndrome includes what other important gene?

Back 146

- Elastin gene

Front 147

WILLIAMS SYNDROME

- plasma level changes?
- causes what increased sensitivity?

Back 147

- increased Ca2+ levels

- Hypersensitivity to Vitamin D

Front 148

WILLIAMS SYNDROME

- Symptoms x3

Back 148

- Well developed Verbal skills
- "Elfin" facies
- Extreme friendliness with strangers

Front 149

22q11 SYNDROMES

- what type of mutation is involved?

Back 149

- Microdeletion

Front 150

22q11 SYNDROMES

- list 2 diseases involving 22q11

Back 150

- DiGeorge

- Velocardiofacial syndrome

Front 151

22q11 SYNDROMES

- etiology?

Back 151

- Defective Development of 3rd & 4th branchial POUCHES

Front 152

22q11 SYNDROMES

- list 5 primary signs & symptoms

Back 152

- Cleft Lip/Palate
- Abnormal Facies
- Thymic Dysplasia (==> T-cell def.)
- CHD
- Hypocalcemia

Front 153

22q11 SYNDROMES

- what immunologic deficiency seen?
- due to what?

Back 153

- T-cell deficiency

- Thymic dysplasia

Front 154

22q11 SYNDROMES

- what plasma level changes seen?
- causes what as a result?

Back 154

- Hypocalcemia

- Increased Sensitivity to Vitamin D

Front 155

22q11 SYNDROMES

- DiGeorge Syndrome has what additional defects? x3

Back 155

- Thymic defect
- Parathyroid defect
- Cardiac defect

Front 156

22q11 SYNDROMES

- Velocardiofacial syndrome has what additional defects?

Back 156

- Facial defects
- Palate defects
- Cardiac defects