Genetic & Chromosomal disorders & diseases

Sickle cell anemia

Tay – Sachs Disease

Affects mostly people of Eastern European Jewish descent

Usually fatal by age 5.

Lipids coat the neurons & nerve cells

Huntington’s Disease

Caused by a dominant allele

Brain degeneration, starts around 40 years old.

Affects about 1 out of every 10,000 people

Muscular Dystrophy

Progressive degeneration & weakness of skeletal muscles.

Some are affected more severely than others.

Many forms of MD

Down Syndrome – usually caused by trisomy of chromosome #21

Cystic Fibrosis

Formation of thick sticky mucuc that blocks respiration & digestive functions.

Meds & treatment available, most people affected do not live past 40 years old.

Usually have many respiratory infections and difficulty breathing.

PKU

Every state tests for this trait.

Treatable with diet changes.

Missing or ineffective enzyme for breaking down phenylalanine.

Can cause brain damage & other problems if untreated.

Miscellaneous Disorders

WARNING!!!Some pictures are graphic &

disturbing!!

Cri Du Chat Syndrome

Caused by missing piece of chromosome 5.

High pitched “cat cry”

Weak muscle tone

Delayed development

Cyclopia

• Sometimes caused by trisomy of #13.

• There are other issues as well.

Turner’s syndrome

Missing X sex chromosome (monosomy of #23)

Klinefelter’s Syndrome

Extra X sex chromosome (trisomy of #23)

Trisomy of #3 with deletion