GENETIC DISORDERS

DISEASES OF WITH VARYING NUMBERS OF CHROMOSOMES

DOWN SYNDROME Cause: Patient has

three copies of the 21st chromosome instead of twoKnown as Trisomy 21

Symptoms: Lifelong mental retardation and developmental delays

http://abcnews.go.com/Health/video/living-with-down-syndrome-15483374

TURNER’S SYNDROME Cause: Woman has only one X

chromosomeHaving only one copy of a chromosome

is called monosomy Symptoms: short in height, failure to

begin puberty, infertility, heart defects, and learning disabilities

KLINEFELTER’S SYNDROME

Cause: Man with more than one X chromosome

Symptoms: Negatively affects testicular growth, which can lead to lower production of testosterone. May also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

DISEASES FOUND ON AUTOSOMAL CHROMOSOMES

MARFAN’S SYNDROME Cause: Defect in the gene that enables your body

to produce a protein that helps give connective tissue its elasticity and strength

Symptoms: Affects connective tissue most commonly in the heart, eyes, blood vessels and skeleton. Causes individual to be tall and thin with disproportionately long arms, legs, fingers and toes.

http://www.youtube.com/watch?v=E_98wTAZNyM

ACHONDROPLASIA Cause: defect in the genes affecting

height Symptoms: dwarfism

http://www.youtube.com/watch?v=yfxB1dDBXtY

SICKLE CELL DISEASE Cause: mutation in the gene that tells your body to make hemoglobin, the oxygen carrying compound found in your blood.

Symptoms: red blood cells become rigid, sticky and crescent shaped. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

PROGERIA Cause: Mutation in the gene that holds

the nucleus of each cell together Symptoms: rapid aging

http://www.youtube.com/watch?v=LvvxHjon_3E

ALBINISM Cause: Mutation of the gene used in the

production of melanin Symptoms: lack of pigmentation

http://www.youtube.com/watch?v=OQoaF6t5QH0

SEX-LINKED DISORDERS

HEMOPHILIA Cause: Sex-linked recessive disorder Symptoms: Blood does not clot properly

http://www.youtube.com/watch?v=BZN9skFmKTg

MUSCULAR DYSTROPHY Cause: Sex-linked recessive disorder Symptoms: weak muscles

http://www.youtube.com/watch?v=ZrPnmgs4rHM