PP Clues - Genetics Flashcards
Typical incidence of rare things
1-3%
Typical incidence with 1 risk factor
10%
Typical incidence with 2 risk factors
50%
Typical incidence with 3 risk factors
90%
AD
Structural problem
50% chance of passing it on
AR
Enzyme deficiency
25% get it
67% carry it
X-linked Recessive diseases
Hunter’s (iduronidase deficiency)
Fabry’s (alpha-galactosidase deficiency)
PDH deficiency
X-linked Recessive diseases can be traced back to
Maternal uncle or grandpa
X-linked Dominant diseases
Vitamin D resistant Ricketts
Pseudohypoparathyroidism
X-linked Recessive diseases can be traced back to
Dad to daughter
Mitochondrial diseases
Leber’s (atrophy of optic nerve)
Leigh’s (subacute necrotizing encephalopathy)
Mitochondrial diseases can be traced back to
Mom to all kids
Why CPR is stopped after 20-30 minutes
Brain has irreversible cell injury
Why only 6 hours to administer tPA
Body has irreversible cell injury
Turner’s
45 XO Female Web neck Cystic hygroma Shield chest Coarctation of aorta
Klinefelter’s
47 XXY Male Tall Gynecomastia Infertility Decreased testosterone
XXX Syndrome
47 XXX
Normal female with 2 Barr bodies
XXY Syndrome
47 XXY
Male
Aggressive, violent behavior
Tall
Trisomy 13
Patau Polydactyly High arched palate Peeing problem Holoprosencephaly
Trisomy 18
Edward’s
Rockerbottom feet
Trisomy 21
Down's Simian crease Wide 1st/2nd toes Macroglossia Mongolian slant of eyes Brushfield spots Retardation
Dinucleotide repeat disease
HNPCC
Trinucleotide repeat diseasea
Huntington’s (CAG)
Fragile X (CGG)
Myotonic Dystrophy (CTG)
Fredrick’s Ataxia (GAA)
Angleman’s
Happy Baby Syndrome
Ataxia
