A woman has a son with Fragile X syndrome. Parental testing of the mother shows that she has one allele with a repeat of 90 (the risk of expansion to a full mutation is 80%). She is now pregnant with a girl. What is the chance that the daughter would have premature ovarian insufficiency (POI) as an adult (the chance of developing POI is 20% in women with FMR1-related premutations)?

Prenatal testing by CVS (chorionic villus sampling) shows that a fetus is affected with Turner syndrome. What can you tell the family about the fetus?

A child is born with a cleft palate and severe congenital heart disease. A chest X-ray shows absence of the thymus. Which statement is TRUE regarding this condition?

What is the believed molecular pathogenesis of the premature ovarian failure in Fragile X premutation carriers?

Which of the following acts as a proxy between an application and a database to support interaction and simplify the work of programmers?

During a meeting of company leadership and the security team, discussion focuses on defining the value of assets in dollars, inventorying threats, predicting the specific amount of harm of a breach, and determining the number of times a threat could cause harm to the company each year. What is being performed?

Matthew would like to test systems on his network for SQL injection vulnerabilities. Which one of the following tools would be best suited to this task?

During what type of penetration test does the tester always have access to system configuration information?

A patient comes into clinic with a very outgoing and friendly personality and a cognitive disability. She has very strong verbal skills. You suspect Williams syndrome, which is generally caused by a 1.5Mb deletion, but there are a few other conditions on your differential. What would be the best test to confirm a diagnosis?

A 25 year old man is found to cafe au lait marks and neurofibromas isolated to his left leg. You diagnose him with mosaic neurofibromatosis type 1 (NF1). What is the mechanism by which mosaic neurofibromatosis type 1 occurs?