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Student
Assigned
Abnormality
or disease
Albinism
Methemoglobinemia Blue Offspring disease
Tay Sachs Disease
Cystic Fibrosis
Pattern of
inheritance
recessive
recessive
Ellis-van Creveld
Syndrome
Fanconi anemia
Galactosemia
PKU- Phenylketonuria
recessive
Sickle Cell Anemia
recessive (Text
book codominant)
dominant
dominant
dominant
Achondroplasia
Camptodactyly
Familial
Hypercholesterolemia
Huntington’s Disease
recessive
recessive
recessive
recessive
recessive
dominant
Marfan Syndrome
Polydactyly
Progeria
Neurofibromatosis
familial ALSamyotrophic lateral
sclerosis
Androgen insensitivity
syndrome
Color Blindness
Fragile X Syndrome
Hemophilia
dominant
dominant
dominant
dominant
dominant, can also
be caused by
mutation on Ch 21
X-linked recessive
Duchenne Muscular
Dystrophy
X-linked anhidrotic
dysplasia
Prader-Willi Syndrome
X-linked recessive
DiGeorge Syndrome
Wolf-Hirschhorn
Syndrome
X-linked recessive
X-linked recessive
X-linked recessive
X-linked recessive
Chromosomal
mutation –
deletion on Ch 15
Chromosomal
mutation –
deletion on Ch 22
Chromosomal
mutation –
deletion on Ch 4
Main Symptoms
absence of pigment in skin eyes and hair
Bright blue skin coloration
break down of nervous system, death in childhood
excess secretions, mucus in lungs, leads to tissue and
organ damage, death in teens or early adulthood
Extra fingers, toes, and short limbs
physical abnormalities, bone marrow failure
build up of sugar causing brain, liver and eye damage
mental retardation – symptoms can be prevented by
strict diet
misshaped red blood cells damage multiple tissues
and organs – carriers benefit from malaria resistance
one form of dwarfism
rigid, bent fingers
higher than average cholesterol levels in blood
leading to heart disease
Nervous system degeneration in mid-age,
irreversible, lethal
abnormal or no connective tissue
extra fingers &/or toes
Drastically premature aging
tumors of the nervous system and skin
degeneration of motor neurons leading to death
XY but has some female traits
Inability to distinguish between some or all colors
Mental impairment
missing or inactive clotting factors, cause excessive
bleeding
progressive loss of muscle function, typically in preteen males
mosaic skin, patches with/without sweat glands,
other symptoms
learning disabilities, behavior problems, short
stature, obesity commonly caused by uncontrollable
hunger
cleft palate, behavior problems, heart defects and
poor immune system
mental retardation, heart defects, weak muscles,
seizures