HOSA Pathophysiology questions with correct answers

Angelman syndrome - correct answer Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - correct 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 - correct answer protein gluten is not properly broken down cystic fibrosis - correct 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 - correct answer Trisomy 21, a condition of retardation and associated physical disorders caused by an extra chromosome in one's genetic makeup duchenne muscular distrophy - correct answer A human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and loss of muscle tissue hemophillia - correct answer rare bleeding disorder in which your blood doesnt clot normally. klinefelter's syndrome - correct answer a chromosomal trisomy in which males have an extra X chromosome resulting in an XXy condition; affected individuals typically have reduced fertility