PRACTICE QUESTIONS WITH VERIFIED
ANSWERS PACKAGE
●● Canavan disease
Answer: autosomal recessive, chromosome 17
enzyme aspartoacylase
hypotonia, poor head control, GE reflux of poor weight gain,
demyelination, progressive leukodstrophy, and death in 1st decade
●● coeliac disease
Answer: protein gluten is not properly broken down
●● cystic fibrosis
Answer: Hereditary condition that causes the exocrine glands to
malfunction. The patient produces very thick mucus that causes severe
congestion within the lungs and digestive system.
●● down syndrome
Answer: Trisomy 21, a condition of retardation and associated physical
disorders caused by an extra chromosome in one's genetic makeup
,●● duchenne muscular distrophy
Answer: A human genetic disease caused by a sex-linked recessive
allele; characterized by progressive weakening and loss of muscle tissue
●● hemophillia
Answer: rare bleeding disorder in which your blood doesnt clot
normally.
●● klinefelter's syndrome
Answer: a chromosomal trisomy in which males have an extra X
chromosome resulting in an XXy condition; affected individuals
typically have reduced fertility
●● neurofibromatosis
Answer: autosomal dominant disease characterized by numerous
neurofibromas and by spots on the skin and often by developmental
abnormalities
●● phenlketonuria
Answer: A genetic disorder caused by a particular pair of homozygous
recessive genes and characterized by the inability to break down
phenylalanine, an amino acid found in many high-protein foods. The
resulting high blood levels of phenylalanine cause mental retardation
,●● polycystic kidney disease
Answer: kidney disease characterized by enlarged kidneys containing
many cysts
●● sickle-cell disease
Answer: A human genetic disease caused by a recessive allele that
results in the substitution of a single amino acid in the hemoglobin
protein; characterized by deformed red blood cells that can lead to
numerous symptoms.
●● turner syndrome
Answer: where females only have a single x chromosome instead of two
●● acne
Answer: an inflammatory disease involving the sebaceous glands of the
skin
●● alopecia
Answer: loss of hair (especially on the head) or loss of wool or feathers
●● angioma
Answer: a tumor consisting of a mass of blood or lymphatic vessels
, ●● athlete's foot
Answer: Fungus infection usually in the skin of the toes and soles
●● boil
Answer: a painful sore with a hard pus-filled core
●● basal cell carcinoma
Answer: Most common and least severe type of skin cancer; often
characterized by light or pearly nodules.
●● bowen's disease
Answer: carcinoma in situ on shaft of penis (* risk of visceral ca)
●● callus
Answer: an area of skin that is thick or hard from continual pressure or
friction (as the sole of the foot)
●● corns
Answer: hard growths on the feet or palms of the hands
●● cellulitis