Path Final Block 2 Genetics

Front 1

Multiple clinical effects of a single gene

Back 1

Pleiotropism

Front 2

different degrees of a clinical expression given the same genotype

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Variable expression

Front 3

Autosomal dominant disorders are usually due to defects in these types of proteins

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Non-enzyme proteins
-membrane receptors
-structural proteins

Front 4

Autosomal recessive disorders are usually due to defects in these type of proteins

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Enzymes

Front 5

term for when some people with an abnormal genotype fail to express the phenotype

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Incomplete penetrance

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Disease that shows Pleotropism

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Marfan syndrome

Front 7

Disease that shows Variable Expressivity

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Neurofibromatosis

Front 8

Abnormality in Fibrillin-1 gene

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Marfan Syndrome

Front 9

3 Autosomal Dominant diseases

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MAN

Marfan
Achondroplasia
Neurofibromatosis

Front 10

Tall and lean
Long extremities and digits
Spine curvature
Sternum abnormality
Joint dislocations
Dolichocephaly = long, thin face

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Marfan Syndrome

Front 11

Dislocation of the Lens
Myopia
Retinal detachment

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Marfan syndrome

Front 12

Mitral valve prolapse
Dilation of Ascending aorta
Rupture of Aorta

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Marfan syndrome

Front 13

Cystic Medial Necrosis

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Marfan Syndrome

Front 14

Most common cause of Dwarfism

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Achondroplasia

Front 15

Abnormality in FGFR-3 gene

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Achondroplasia

*causes premature closure of epiphyseal plates of long bones

Front 16

Shortened PROXIMAL extremities
Normal spine length with Lordosis
Macrocephaly

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Achondroplasia

Front 17

Consequence of being homozygous for Achondroplasia

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Lethal

Front 18

Disease in which penetrance is 100% but is age-dependent

Also has Variable Expressivity

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Neurofibromatosis-1

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Hyperpigmented macule = "cafe au lait" or Axillary freckling

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Neurofibromatosis-1

Front 20

Lisch nodules

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NF-1

Front 21

Deficiency of Hexosaminidase A

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Tay-Sachs Disease

Front 22

whorled "Myelin Figures" within Lysosomes

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Tay-Sachs Disease

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Cherry red spot on Retina

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Tay-Sachs Disease

Front 24

High incidence in Ashkenazi jews

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Tay-Sachs disease

Front 25

Autosomal recessive mutation in Glucocerebrosidase

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Gaucher's disease

Front 26

2 Autosomal Recessive disorders

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Tay-Sachs
Gauchers

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Genetic disease that occurs only in males

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X-linked recessive

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3 X-linked Recessive Disorders

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Duchenne's Muscular Dystrophy
Becker's MD
Hemophilia A

Front 29

Deficiency of Dystrophin

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Duchene and Becker MD

Front 30

Pseudohypertrophy of the Calves

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Duchene Muscular Dystrophy

Front 31

Gower maneuver

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DMD

Front 32

Normal healthy babies
Able to walk into the second decade
No mental retardation
Most live past 21 years

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Becker MD

Front 33

Elevated CK levels

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Muscular Dystrophy

Front 34

Hemophilia A deficiency

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Factor VIII

Front 35

2 X-linked Dominant Disorders

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Vitamin D resistant Rickets

Incontinentia pigmenti

Front 36

All daughters of an affected man will have the disorder

No sons of an affected man will have the disorder

Present in EVERY GENERATION

Females can pass it on to both males and females

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X-linked Dominant

Front 37

Use of fluorescent labeled DNA probes for the identification of chromosome abnormalities

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FISH

Front 38

Advantages of FISH

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cells do not have to be alive

cells do not have to be in mitotic phase

Front 39

Chromosome number that is not a multiple of 23 (24, 25, 21)

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Aneuploidy

Front 40

What are 1/2 of spontaneous abortions caused by?

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Chromosome disorders

Front 41

Majority of Down Syndrome is caused by what?

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nondisjunction in Meiosis I

Front 42

Only Monosomy compatible with life

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Turner's Syndrome (X0)

Front 43

Most common cause of moderate mental retardation

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Trisomy 21 = Down syndrome

Front 44

Simian crease + Epicanthal folds

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Down Syndrome

Front 45

Congenital heart disease
duodenal atresia
increased risk of Leukemia
Alzheimer disease-like lesions

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Down Syndrome

Front 46

46 total chromosomes
14;21 chromosome mom
21 chromosome from mom
21 chromosome from dad

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Robertsonian Translocation causing Down Syndrome

Front 47

Edward Syndrome

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Trisomy 18

Front 48

Prominent occiput
Clenched fists with 2nd and 5th digits overlapping 3rd and 4th
Rocker-bottom feet
Majority die within 1 year

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Trisomy 18

Front 49

Microcephaly with Cleft lip/palate
Polydactyl

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Trisomy 13

Front 50

47, XXY

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Klinefelter

Front 51

Hypogonadism resulting from lack of androgens
Elevated FSH

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Klinefelter Syndrome

Front 52

Usual result of 45, X

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spontaneous abortion = 99%

Front 53

Short Stature
Streak gonads
Bicuspid valve
Coartation of aorta
Horseshoe kidney

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Turner Syndrome 45, X

Front 54

Webbed neck due to Lymphedema
Widely space nipples

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Turner's Syndrome

Front 55

A person comes to you who has had many spontaneous abortions and the child they do have has several congenital abnormalities. What is the possible cause?

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Balanced Tranlocation

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5p-

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Cri du chat

Front 57

Deletion 22q11.2

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DiGeorge Syndrome

Front 58

15q12 deletion

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Prader-willi / Angelman

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Mental Retardation
Obesity
Hypogonadism

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Prader-Willi

Front 60

Mental Retardation

Ataxia

Inappropriate laughter

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Angelman Syndrome

Front 61

diploid (both sets of
chromosomes are paternal); fertilization of empty egg, duplication of paternal chromosomes (46, XX)

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Complete mole

Front 62

triploid (two of three sets
of chromosomes are paternal); fertilization of egg by two sperm (69, XXY)

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Partial mole

Front 63

transforms into Choriocarcinoma

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Complete mole

Front 64

2 ways of detecting Gene Amplification?

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Double minutes

Homogenous Staining region

Front 65

Defect of anterior neural tube closure resulting in absence of the brain and calvarium

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Anencephaly

Front 66

incomplete closure of the posterior spinal cord and vertebral column

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Spina bifida

Front 67

Protein in serum or amniotic fluid associated with Neural Tube Defects

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Alpha-fetoprotein

Front 68

Supplement that reduces incidence of Neural Tube Defects

What does it lower leves of?

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Folate

Homocystein = teratogen

Front 69

high HCG

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Down Syndrome

Front 70

Low levels of AFP, uE3, and HCG

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Trisomy 18

Front 71

Pulmonary hypoplasia related to Oligohydramnios

Abnormal position of hands and feet

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Potter Complex

Front 72

definition of prematurity

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less than 37 wks

Front 73

Cells that produce Surfactant

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Type II Pneumocytes

Front 74

Best indicator of mature lungs

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Phosphatidylglycerol

Front 75

Hyaline membranes, capillary congestion, thickened
alveolar walls

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Respiratory Distress Syndrome of the Newborn

Front 76

3 complications of RDS of the Newborn

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1. Intraventricular Hemorrhage
2. Necrotizing Enterocolitis
3. Bronchopulmonary dysplasia

Front 77

Damage to the brain centers in infants due to jaundice (bilirubin) in Hydrops Fetalis

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Kernicterus

Front 78

Cause of Hydrops Fetalis

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Rh+ baby in Rh- mother makes Anti-Rh Ab's to babies RBC's

Front 79

Mothers transmit to all their children
No offspring of affected men
No male to male transmission

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Mitochondrial inheritance

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Kearns-Sayre Syndrome

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Mitochondrial disease

Front 81

presence of two populations of cells with different genotypes in one patient

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Germline Mosaicism

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Example of Germline Mosaicism

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Osteogenesis Imperfecta

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Blue Sclera

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Osteogenesis Imperfecta

Front 84

"Brittle bone disease"

associated with mutation in genes encoding for Collage I

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Osteogenesis Imperfecta

Front 85

Remarkable situation where both chromosomes in a pair are from one parent and neither from the other

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Uniparental disomy (isodisomy)

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What are paternal genes important for?

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Placentation

Front 87

What are Maternal genes important for?

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Embryogenesis

Front 88

2 Anticipation diseases

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Myotonic Dystrophy

Fragile X

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Most common cause of FAMILIAL mental retardation

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Fragile X syndrome

Front 90

Affected males - mental retardation, long faces with large mandible, large everted ears, and hyper-gonadism

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Fragile X

Front 91

Repeat in 5’ untranslated region of FMR-1 gene

Expansion of repeat only when transmitted maternally

CGG repeat

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Fragile X

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Advanced maternal age

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35

Front 93

What does Nuchal Translucency detect and not detect?

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Detect = Chromosomal Aneuploidy

Not detect = NTD's

Front 94

Addition of this marker increases the sensitivity and specificity for Down Syndrome detection

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Inhibin-A

Front 95

Detailed scan of fetus to look for “soft signs” of Down syndrome and trisomy 18 as well as ONTD’s
Detection ~50-60% for trisomy 21
Detection ~80% in trisomy 18
Detection ~95% for ONTD’s

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Targeted Ultrasound

Front 96

Thickened nuchal fold, congenital heart defect, clinodactyly, absent nasal bone in ULTRASOUND

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DOWN SYNDROME

Front 97

Rocker-bottom feet, congenital heart defect, neural tube defect, choroid plexus cysts, clenched hands IN ULTRASOUND

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TRISOMY 18

Front 98

Affected males - mental retardation, long faces with large mandible, large everted ears, and hyper-gonadism

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Fragile X

Front 99

Repeat in 5’ untranslated region of FMR-1 gene

Expansion of repeat only when transmitted maternally

CGG repeat

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Fragile X

Front 100

Advanced maternal age

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35

Front 101

What does Nuchal Translucency detect and not detect?

Back 101

Detect = Chromosomal Aneuploidy

Not detect = NTD's

Front 102

Addition of this marker increases the sensitivity and specificity for Down Syndrome detection

Back 102

Inhibin-A

Front 103

Detailed scan of fetus to look for “soft signs” of Down syndrome and trisomy 18 as well as ONTD’s
Detection ~50-60% for trisomy 21
Detection ~80% in trisomy 18
Detection ~95% for ONTD’s

Back 103

Targeted Ultrasound

Front 104

Thickened nuchal fold, congenital heart defect, clinodactyly, absent nasal bone in ULTRASOUND

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DOWN SYNDROME

Front 105

Rocker-bottom feet, congenital heart defect, neural tube defect, choroid plexus cysts, clenched hands IN ULTRASOUND

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TRISOMY 18