HOSA Pathophysiology Study Guide with complete solutions

HOSA Pathophysiology Study Guide with complete solutions Angelman syndrome - answerDeletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - answerautosomal 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 - answerprotein gluten is not properly broken down cystic fibrosis - answerHereditary 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 - answerTrisomy 21, a condition of retardation and associated physical disorders caused by an extra chromosome in one's genetic makeup duchenne muscular distrophy - answerA human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and loss of muscle tissue hemophillia - answerrare bleeding disorder in which your blood doesnt clot normally. klinefelter's syndrome - answera chromosomal trisomy in which males have an extra X chromosome resulting in an XXy condition; affected individuals typically have reduced fertility neurofibromatosis - answerautosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities phenlketonuria - answerA 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 - answerkidney disease characterized by enlarged kidneys containing many cysts