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Repro/heme Path > Gen and Cong Abnormalities > Flashcards

Gen and Cong Abnormalities Flashcards

1
Q

mendelian disorder

A

single gene mutations

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2
Q

AD disorders

A

affects non-enzyme proteins

affects key structural proteins

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3
Q

AR disorder

A 
largest category of mendelian disorders
expression more uniform
complete penetrance common
loss of function of enzyme protein
inborn errors of metab
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4
Q

X-linked disorders

A

recessive (almost all)

dominant –> Vit D -resistant rickets

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5
Q

Galactosemia

A

accumulation of substrate

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6
Q

Albinism

A

enzyme defect leading to metabolic block –> dec amount of end product

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7
Q

alpha-1-antitrypsin def

A

failure to inactivate tissue-damaging substrate

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8
Q

Familial Hypercholesterolemia

A

reduced synthesis or function of LDL receptors

most frequent mendelian disorder

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9
Q

Cystic fibrosis

A

defective system for Cl- xsport

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10
Q

Sickle cell disease

A

alter nonenzyme protein structure

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11
Q

Thalassemia

A

mutation in globin genes affect amount of globin chains synth

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12
Q

Osteogenesis imperfecta

A

collagen structural defect

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13
Q

Muscular dystrophy

A

Dystrophin structural defect

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14
Q

hereditary spherocytosis

A

spectrin structural defect

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15
Q

G6PD deficiency

A

gen determined adverse reaction to drugs (fava beans)

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16
Q

Marfan syndrome

A

fibrillin defect

arachnodactyly / lax joints / lens dislocation / mitral valve prolapse / aortic dissection and dilation

17
Q

Ehlers-Danlos Syndrome

A

disorders of defective collagen synthesis or structure
hyper extensible skin / hyper mobile joints / colon rupture / artery rupture, etc
14 types

18
Q

Tay-Sachs Disease

A 
GM2 gangliosidosis
Hexosaminidase A deficiency
ganglioside accumulation in tissues
chromosome 15
Oil red O stain 
cherry red spot in macula
19
Q

Neimann-Pick Disease

A 
accumulation of sphingomyelin
sphingomyelinase def
Type A most common --> severe infantile form
lipid laden foam cells
cherry red spot
20
Q

most common lysosomal storage disease

A

Gaucher disease

21
Q

Gaucher disease

A

most common lysosomal storage disease
glucocerebrosidase gene mutation
glucocerebroside accumulation in phagocytes –> Gaucher cells –> crumpled tissue paper (fibrillary cyto)
PAS+

22
Q

Type I Gaucher disease

A

most common
limited to phagocytes throughout the body
spares CNS

23
Q

Type II Gaucher disease

A

infantile acute cerebral pattern
die early
no predilection for Jews

24
Q

Mucopolysaccharidoses

A

types I-IV
all are AR except Hunter (XR)
coarse facial features / cloudy cornea / stiff joints / mental retardation

25
Q

Alkaptonuria (Ochronosis)

A 
homogentisic oxidase def
accumulation of homogentisic acid
black urine upon standing
black/blue discoloration of tissues
degenerative arthropathy --> cart becomes brittle and fibrillated
26
Q

neurofibromatosis type I

A

neurofibromas
cafe au lair spots
lisch nodules –> pigmented iris hamartomas
mutation NF-1 gene –> codes for neurofibromin (tumor suppressor gene)

27
Q

neurofibromatosis type II

A

bilateral acoustic schwannomas
multiple meningiomas
NF-2 gene –> also tumor suppressor

28
Q

Tuberous Sclerosis

A

AD
CNS hamartomas –> cortical tubers and subependymal nodules
other tumors
cutaneous lesions (ash-leaf patches and such)
TSC1 = hamartin mutation
TSC2 (more common) = tuber in mutation
proteins forms complex inhib the kinase mTOR
lots of cyto; giant cell astrocytomas in CNS and cardiac rhabdomyomas

29
Q

Trisomy 21

A 
Down Syndrome
most common chromosomal disorder
d/t meiotic disjunction
maternal age strong influence
simian crease / brushfield spots on iris / etc
30
Q

Trisomy 18

A 
Edwards syndrome
overlapping fingers
micrognathia
low set ears
rarely live more than a few years
31
Q

Trisomy 13

A

Patau syndrome
cleft lip and palate
rocker-bottom feet
rarely live more than a few years

32
Q

Principle cause of reduced spermatogenesis and male infertility

A

Klinefelter syndrome

XXY

33
Q

most common sex abnormality in females

A

Turner syndrome
XO
cystic hygroma

34
Q

Rubella

A

at risk first 16 wks
PDA
microcephaly
cataracts

35
Q

most common fetal viral infection

A

CMV
highest risk period is second trimester
owl eye inclusions

Repro/heme Path (11 decks)

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