Down Syndrome

Trisomy-21
Turner Syndrome
• 45, XO
• Affects females only
• Only 1 functional X chromosome
Klinefelter Syndrome
47, XXY
Affects males only
Additional X chromosome (X+XY)
Triple X Syndrome
Extra X chromosome in females
“metafemales”
Discovered by Patricia Jacobs
Patau Syndrome
Trisomy 13
Cystic Fibrosis
It causes severe damage to the lungs and digestive system.
Cri-du-chat Syndrome
caused by the deletion of genetic material on the p-arm of chromosome 5.
• a high-pitched cat-like cry, mental retardation, delayed development,
distinctive facial features, small head size (microcephaly), widely-
spaced eyes (hypertelorism), low birth weight and weak muscle tone
(hypotonia) in infancy.
Williams Syndrome
caused by deletions of genetic material on chromosome #7.
Scott Thompson
a.k.a. Carrot Top
Orlando Bloom
Mick Jagger Harry Styles
Edwards Syndrome
Trisomy 18 (second most common trisomy)
• 80% are females

• Low survival rate –

rarely live past 5-6 days

• Majority die before birth

• The oldest person with ES lived up

to 22 years.
Sickle Cell Disease
A hereditary condition involving an abnormality in the structure of hemoglobin
(hemoglobinopathy).