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Characteristics
Disease examples
Autosomal
Dominant
Marfan's, Huntington's,
osteogenesis imperfecta,
Neurofibromas, polycistic
kidney disease, achondroplasia
Autosomal
Recessive
**Pseudodominant
Pedigree
X-linked
recessive
X-linked
Dominant
Mitochondrial
inheritance
LHON
Mosaic
Disease
Cause
Patau
Syndrome
Trisomy 13
1/5000
7 days
Significant physical
malformation,
cardiac, genitourinary and renal
defects, polydactyly,
cleft palate
Nondisjuction 50%
likely in meiosis I,
25% II
Edward's
Syndrome
Trisomy 18
1/3000,
50% 7d,
5-10% 1yr
Prominent occiput,
Nondisjuction 50%
short neck, tightly
likely in meiosis I,
clenched hands, renal 25% II
malformations,
rocker-bottom feet,
low set ears
Down's
Syndrome
Trisomy 21
1/700
IQ 25-50, heart
Nondisjunction,
disease, septal
Robertsonian 4%,
defects, >40yrs
mosaic 1%
develop similarities to
Alzheimer's
Turner's
Syndrome
45X
1/2500,
Mosaic survive
99% abort
Infertile, Short
stature <5', delayed
puberty, slightly
decreased IQ, puffy
feet, excess nuchal
skin, ovarian stroma
without germ cell
elements
Klinefelter
47XXY
1/500, likely
survival
Tripple X
47XXX
1/1000,
Likely survival
Maternal meiosis
47XYY
1/1000,
Likely survival
Paternal meiosis II
Structural
Translocations .9% pregnancies
Chromosomal or inversions and newborns, 4abnormality
5% men w/low
sperm count
Partially mosaic in
living cases,
imbalance