Kids are allergic to milk products
A 3 year old boy was brought in to his pediatrician by his m…
A 3 year old boy was brought in to his pediatrician by his mother who is concerned that he is “walking funny”. The pediatrician orders a serum CK (creatine kinase) test and finds it highly elevated and suspects muscular dystrophy. DNA testing determines that he has an out-of-frame deletion in the dystrophin gene. What information would be MOST appropriate to give the family about his diagnosis?
Acrocentric chromosomes have a small short arm (p) consistin…
Acrocentric chromosomes have a small short arm (p) consisting of repetitive DNA. What is the clinical significance of this finding?
A particular condition shows a concordance of 0.7 in monozyg…
A particular condition shows a concordance of 0.7 in monozygotic twins and 0.1 in dizygotic twins. Which of the following best describes the significance of this difference?
A woman has a son with Fragile X syndrome. Parental testing…
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 th…
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 he…
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…
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 applicatio…
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…
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?