Autosomal Dominant

Dwarfism

caused by mutation of the FGFR3 gene on chromsome 4

Autosomal Dominant

NF1: chromosome 17

NF2: chromosome 22

tumor growth under the skin

starts with "cafe au leit" spots

Autosomal Dominant

Duplication

Mutation on chromosome 4

death 10-15 years

neurological disorder. loss of memory, depression, muscle spasms

no cure

Autosomal Recessive

chromosome 12

mutation gene for the enzyme PAH which breaks down PHE

causes: brain damage, seizures, underdeveloped teeth, and bad smelling urine.

Autosomal Recessive

Chromosome 11

missing enzyme tyrosinase

lack of pigmentation of the skin

symptoms: vision impairment.

Autosomal Recessive

Chromosome 15

abnormality in the breakdown of lipids

toxis accumilation in the brain and spinal chord

symptoms: brain damage

Autosomal Recessive

Chromosome 7

abnormal Cl- transport causes mucus buildup in lungs

can lead to lethal lung infections and obstructs pancreas

Autosomal Recessvie

Chromosome 11

mutated beta globin

symptoms: lack of oxygen, clotting of blood flow

Autosomal Dominant

chromosome 17

mutations that stop the synthesis of collagen

symptoms: brittle/weakening bones

Deletion

loss of gene in chromosome 7

elastin missing

symptoms: "pixie" appearance, learning disorders, rapid aging

Deletion

loss of segment in chromosome 5

severe mental retardation

symptoms: vocal box mutated

Deletion

chromosome 11 (2 faulty genes)

absence of iris in the eye

Symptoms: wilm's tumor which can be found as a result of aniridia in the kidney

translocation

between chromosome 2 and 20

symptoms: fatty deposits in skin, stunted growth and abnormal eyes.

Autosomal Recessive

chromosome 22

lacks enzyme that converts methemoglobin back to hemoglobin

symptoms: blueish skin

Autosomal Recessive

chromosome 7

faulty enzyme that breaks down lipids

symptoms: lipids build up in brain which results in mental retardation