college bio genetic diseases

albinism

autosomal recessive, absense of pigmentation

cystic fibrosis

autosomal recessive, abnormal amount of mucus being produced in the lungs

galactosemia

autosomal recessive, inability to metabolize lactose

phenylketonuria (PKU)

autosomal recessive, inability to digest phenylalanine, babies are checked at birth

achondroplasia

autosomal dominant, one form of dwarfism

huntingtons

autosomal dominant, nervous system degenerates

progeria

autosomal dominant, drastic premature aging

colorblindness

sex linked recessive, inability to distinguish colors

fragile x

sex linked recessive, duplication, second leading cause of mental retardation

hemophilia

sex linked, inability to clot blood

adrenoleudodystrophy (ADL)

sex linked recessive, nervous system degeneration, treatment- lorenzo’s oil

duchenne muscular dystrophy

sex linked, muscle degeneration

cri-du-chat

change in chromosome structure, deletion, mental retardation, cat cry

down syndrome

changes in chromosome number, mental retardation, heart issues

turner syndrome xo

changes in chromosome number, deletion, sterility, abnormal sexual traits

klinefelter syndrome xxy

changes in chromosome number, sterility, mild retardation

tay sachs

autosomal recessive, nervous system, death results at toddler age

aneuploidy

1 extra or 1 less chromosome, major cause of miscarriage

polyploidy

3+ of each type of chromosome, lethal for humans