FINAL PATHO EXAM

Turner syndrome A chromosomal disorder in females in which either an X chromosome is missing, making the person XO instead of XX, or part of one X chromosome is deleted. Patients with suspected Turner syndrome require genetic testing and hormone level evaluation. Echocardiogram, bone density, and bone age testing are necessary. Treatment involves estrogen therapy and growth hormone administration. The patient should be treated symptomatically for all other effects of the disease. -Underdeveloped ovaries (sterile) -Short stature (~ 4'7") -Webbing of the neck -Edema -Underdeveloped breasts; wide nipples -High number of aborted fetuses Tay-Sachs Disease A human genetic disease caused by a recessive allele for a dysfunctional enzyme leads to the accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few months after birth, followed by death within a few years. Down syndrome A condition of mild to severe intellectual disability and associated physical disorders caused by an extra copy of chromosome 21