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105 Cards in this Set

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Multiple clinical effects of a single gene
Pleiotropism
different degrees of a clinical expression given the same genotype
Variable expression
Autosomal dominant disorders are usually due to defects in these types of proteins
Non-enzyme proteins
-membrane receptors
-structural proteins
Autosomal recessive disorders are usually due to defects in these type of proteins
Enzymes
term for when some people with an abnormal genotype fail to express the phenotype
Incomplete penetrance
Disease that shows Pleotropism
Marfan syndrome
Disease that shows Variable Expressivity
Neurofibromatosis
Abnormality in Fibrillin-1 gene
Marfan Syndrome
3 Autosomal Dominant diseases
MAN

Marfan
Achondroplasia
Neurofibromatosis
Tall and lean
Long extremities and digits
Spine curvature
Sternum abnormality
Joint dislocations
Dolichocephaly = long, thin face
Marfan Syndrome
Dislocation of the Lens
Myopia
Retinal detachment
Marfan syndrome
Mitral valve prolapse
Dilation of Ascending aorta
Rupture of Aorta
Marfan syndrome
Cystic Medial Necrosis
Marfan Syndrome
Most common cause of Dwarfism
Achondroplasia
Abnormality in FGFR-3 gene
Achondroplasia

*causes premature closure of epiphyseal plates of long bones
Shortened PROXIMAL extremities
Normal spine length with Lordosis
Macrocephaly
Achondroplasia
Consequence of being homozygous for Achondroplasia
Lethal
Disease in which penetrance is 100% but is age-dependent

Also has Variable Expressivity
Neurofibromatosis-1
Hyperpigmented macule = "cafe au lait" or Axillary freckling
Neurofibromatosis-1
Lisch nodules
NF-1
Deficiency of Hexosaminidase A
Tay-Sachs Disease
whorled "Myelin Figures" within Lysosomes
Tay-Sachs Disease
Cherry red spot on Retina
Tay-Sachs Disease
High incidence in Ashkenazi jews
Tay-Sachs disease
Autosomal recessive mutation in Glucocerebrosidase
Gaucher's disease
2 Autosomal Recessive disorders
Tay-Sachs
Gauchers
Genetic disease that occurs only in males
X-linked recessive
3 X-linked Recessive Disorders
Duchenne's Muscular Dystrophy
Becker's MD
Hemophilia A
Deficiency of Dystrophin
Duchene and Becker MD
Pseudohypertrophy of the Calves
Duchene Muscular Dystrophy
Gower maneuver
DMD
Normal healthy babies
Able to walk into the second decade
No mental retardation
Most live past 21 years
Becker MD
Elevated CK levels
Muscular Dystrophy
Hemophilia A deficiency
Factor VIII
2 X-linked Dominant Disorders
Vitamin D resistant Rickets

Incontinentia pigmenti
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
X-linked Dominant
Use of fluorescent labeled DNA probes for the identification of chromosome abnormalities
FISH
Advantages of FISH
cells do not have to be alive

cells do not have to be in mitotic phase
Chromosome number that is not a multiple of 23 (24, 25, 21)
Aneuploidy
What are 1/2 of spontaneous abortions caused by?
Chromosome disorders
Majority of Down Syndrome is caused by what?
nondisjunction in Meiosis I
Only Monosomy compatible with life
Turner's Syndrome (X0)
Most common cause of moderate mental retardation
Trisomy 21 = Down syndrome
Simian crease + Epicanthal folds
Down Syndrome
Congenital heart disease
duodenal atresia
increased risk of Leukemia
Alzheimer disease-like lesions
Down Syndrome
46 total chromosomes
14;21 chromosome mom
21 chromosome from mom
21 chromosome from dad
Robertsonian Translocation causing Down Syndrome
Edward Syndrome
Trisomy 18
Prominent occiput
Clenched fists with 2nd and 5th digits overlapping 3rd and 4th
Rocker-bottom feet
Majority die within 1 year
Trisomy 18
Microcephaly with Cleft lip/palate
Polydactyl
Trisomy 13
47, XXY
Klinefelter
Hypogonadism resulting from lack of androgens
Elevated FSH
Klinefelter Syndrome
Usual result of 45, X
spontaneous abortion = 99%
Short Stature
Streak gonads
Bicuspid valve
Coartation of aorta
Horseshoe kidney
Turner Syndrome 45, X
Webbed neck due to Lymphedema
Widely space nipples
Turner's Syndrome
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?
Balanced Tranlocation
5p-
Cri du chat
Deletion 22q11.2
DiGeorge Syndrome
15q12 deletion
Prader-willi / Angelman
Mental Retardation
Obesity
Hypogonadism
Prader-Willi
Mental Retardation

Ataxia

Inappropriate laughter
Angelman Syndrome
diploid (both sets of
chromosomes are paternal); fertilization of empty egg, duplication of paternal chromosomes (46, XX)
Complete mole
triploid (two of three sets
of chromosomes are paternal); fertilization of egg by two sperm (69, XXY)
Partial mole
transforms into Choriocarcinoma
Complete mole
2 ways of detecting Gene Amplification?
Double minutes

Homogenous Staining region
Defect of anterior neural tube closure resulting in absence of the brain and calvarium
Anencephaly
incomplete closure of the posterior spinal cord and vertebral column
Spina bifida
Protein in serum or amniotic fluid associated with Neural Tube Defects
Alpha-fetoprotein
Supplement that reduces incidence of Neural Tube Defects

What does it lower leves of?
Folate

Homocystein = teratogen
high HCG
Down Syndrome
Low levels of AFP, uE3, and HCG
Trisomy 18
Pulmonary hypoplasia related to Oligohydramnios

Abnormal position of hands and feet
Potter Complex
definition of prematurity
less than 37 wks
Cells that produce Surfactant
Type II Pneumocytes
Best indicator of mature lungs
Phosphatidylglycerol
Hyaline membranes, capillary congestion, thickened
alveolar walls
Respiratory Distress Syndrome of the Newborn
3 complications of RDS of the Newborn
1. Intraventricular Hemorrhage
2. Necrotizing Enterocolitis
3. Bronchopulmonary dysplasia
Damage to the brain centers in infants due to jaundice (bilirubin) in Hydrops Fetalis
Kernicterus
Cause of Hydrops Fetalis
Rh+ baby in Rh- mother makes Anti-Rh Ab's to babies RBC's
Mothers transmit to all their children
No offspring of affected men
No male to male transmission
Mitochondrial inheritance
Kearns-Sayre Syndrome
Mitochondrial disease
presence of two populations of cells with different genotypes in one patient
Germline Mosaicism
Example of Germline Mosaicism
Osteogenesis Imperfecta
Blue Sclera
Osteogenesis Imperfecta
"Brittle bone disease"

associated with mutation in genes encoding for Collage I
Osteogenesis Imperfecta
Remarkable situation where both chromosomes in a pair are from one parent and neither from the other
Uniparental disomy (isodisomy)
What are paternal genes important for?
Placentation
What are Maternal genes important for?
Embryogenesis
2 Anticipation diseases
Myotonic Dystrophy

Fragile X
Most common cause of FAMILIAL mental retardation
Fragile X syndrome
Affected males - mental retardation, long faces with large mandible, large everted ears, and hyper-gonadism
Fragile X
Repeat in 5’ untranslated region of FMR-1 gene

Expansion of repeat only when transmitted maternally

CGG repeat
Fragile X
Advanced maternal age
35
What does Nuchal Translucency detect and not detect?
Detect = Chromosomal Aneuploidy

Not detect = NTD's
Addition of this marker increases the sensitivity and specificity for Down Syndrome detection
Inhibin-A
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
Targeted Ultrasound
Thickened nuchal fold, congenital heart defect, clinodactyly, absent nasal bone in ULTRASOUND
DOWN SYNDROME
Rocker-bottom feet, congenital heart defect, neural tube defect, choroid plexus cysts, clenched hands IN ULTRASOUND
TRISOMY 18
Affected males - mental retardation, long faces with large mandible, large everted ears, and hyper-gonadism
Fragile X
Repeat in 5’ untranslated region of FMR-1 gene

Expansion of repeat only when transmitted maternally

CGG repeat
Fragile X
Advanced maternal age
35
What does Nuchal Translucency detect and not detect?
Detect = Chromosomal Aneuploidy

Not detect = NTD's
Addition of this marker increases the sensitivity and specificity for Down Syndrome detection
Inhibin-A
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
Targeted Ultrasound
Thickened nuchal fold, congenital heart defect, clinodactyly, absent nasal bone in ULTRASOUND
DOWN SYNDROME
Rocker-bottom feet, congenital heart defect, neural tube defect, choroid plexus cysts, clenched hands IN ULTRASOUND
TRISOMY 18