WGU D236 Pathophysiology Exam 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. - ANSWER Turner syndrome 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. - ANSWER Tay-Sachs Disease A condition of mild to severe intellectual disability and associated physical disorders caused by an extra copy of chromosome 21 - ANSWER Down syndrome Antidiuretic hormone is not secreted adequately, or the kidney is resistant to its effect. The *serum sodium is often elevated* due to excess free water losses. 1 / 2
In this, your blood glucose levels are normal, but your kidneys can't properly concentrate urine. - ANSWER Diabetes Insipidus Inflammation of the renal pelvis and the kidney - ANSWER Pyelonephritis This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.At least 25 percent of these cases result from a new mutation in the FBN1 gene - ANSWER Marfan Syndrome - Autosomal dominant trait Not having enough *folic acid* during pregnancy is one of the most important factors that can increase the chances of having a child with this - ANSWER Spina Bifida Inflammation of a bursa sac. Inflammation of the fluid-filled pads (bursae) that act as cushions at the joints. - ANSWER Bursitis
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