Genetic Inheritance

Question 1

Mosaicism (different genotype than parent) 
45XO (no Y chromosome) 
Sterile, many don’t undergo puberty 
Stunted growth 
Ovarian failure 
Webbed neck, low hairline

Answer 1

Turner Syndrome

Question 2

Mosaicism (different genotype from parent)
47XXY
Varying degrees of learning, social, cognitive development
Tall stature
Infertility
Hypogonadism (low T) -> small/no devel. Testes

Answer 2

Klinfelter Syndrome

Question 3

47XX
Trisomy 21
Can be due to translocation or mosaicism

Answer 3

Down’s Syndrome

Question 4

47XX, +13

Severe developmental abnormalities

Answer 4

Patau Syndrome

Question 5

47XX +18

Abnormal development

Answer 5

Edward’s Syndrome

Question 6

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

Answer 6

Prader Willi Syndrome and Angelman Syndrome

Question 7

Mito disorder
Degeneration of retinal ganglion cells
Vision loss

Answer 7

Leber’s hereditary optic neuropathy

Question 8

Mito disease 
Stroke 
Demential 
Lactic acidosis 
Affects many body systems - brain, muscles, nervous system

Answer 8

Mitochondrial encephalopathy, lactic acidosis, stroke-like symptoms