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PEDIGREES (MITOCHONDRIAL (EXAMPLES (MITOCH. MYOPATHIES (RED RAGGED FIBERS)…
PEDIGREES
MITOCHONDRIAL
HOMO
ALL
HETERO
SUPER VARY
MOMS ONLY
EXAMPLES
MITOCH. MYOPATHIES
RED RAGGED FIBERS
LEBER OPTIC NEUROPATHY
AUTOSOMAL RECESSIVE
50%
NO DZ
25%
HAS DZ
NO DZ
FREQUENCY
BOTH
1/50 AND 1/100
(1/50)
*
(1/100)
1/5000
CHILD AFFECTED
1/5000
1/4
1/20000
INCOMPLETE DOMINANCE
HETERO
LESS SEVERE
FAMILIAL HYPERCHOLESTEROLEMIA
HOMO 650 - 1000
HETERO 350-550
ACHONDROPLASIA
HOMO
FATAL
X LINKED
RECESSIVE
ALL MALES HAVE IT
FEMALE CARRIERS
UNLESS
SKEWED IONIZATION
BARR BODY
RANDOM
IF MORE DZ X IS ACTIVE
MORE DZ
DOMINANT
BOTH SEXES
NO MALE TO MALE TRANSMISSION
SOME MALES ARE HEALTHY
Y CHROM
EXAMPLES
FRAGILE X
ALPORT
RETT SYNDROME
LOOKS SIMIL. TO AR
AUTOSOMAL DOMINANT
1 AFFECTED
50/50
TIMES