1
Q
Mosaicism (different genotype than parent) 45XO (no Y chromosome) Sterile, many don’t undergo puberty Stunted growth Ovarian failure Webbed neck, low hairline
A
Turner Syndrome
2
Q
Mosaicism (different genotype from parent)
47XXY
Varying degrees of learning, social, cognitive development
Tall stature
Infertility
Hypogonadism (low T) -> small/no devel. Testes
A
Klinfelter Syndrome
3
Q
47XX
Trisomy 21
Can be due to translocation or mosaicism
A
Down’s Syndrome
4
Q
47XX, +13
Severe developmental abnormalities
A
Patau Syndrome
5
Q
47XX +18
Abnormal development
A
Edward’s Syndrome
6
Q
Deletion on chromosome 15 Paternal C15 = Prader Willi - short stature, small hands/feet - obesity - mild cognitive disabilities
Maternal C15= Angelman
- severe cognitive disabilities
- seizures
- ataxia gait
A
Prader Willi Syndrome and Angelman Syndrome
7
Q
Mito disorder
Degeneration of retinal ganglion cells
Vision loss
A
Leber’s hereditary optic neuropathy
8
Q
Mito disease Stroke Demential Lactic acidosis Affects many body systems - brain, muscles, nervous system
A
Mitochondrial encephalopathy, lactic acidosis, stroke-like symptoms
