Genetic testing approaches — Flashcards

Flashcard 1: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____

Answer: Williams syndrome

Flashcard 2: When are patients screened for phenylketonuria?_____

Answer: 2-3 days after birth

Flashcard 3: What newborn screening blood test is used to screen for cystic fibrosis? _____

Answer: Immunoreactive trypsinogen

Flashcard 4: What pathology is associated with an enlarged jaw, testes, and ears?_____

Answer: Fragile X syndrome

Flashcard 5: What chromosomal abnormality is commonly associated with endocardial cushion defects? _____

Answer: Trisomy 21 (Down syndrome)

Flashcard 6: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann

Flashcard 7: Trisomy 21 is associated with _____, which are elevated white spots on the iris.

Answer: Brushfield spots

Flashcard 8: What trinucleotide repeat disorder is associated with autism?_____

Answer: Fragile X syndrome

Flashcard 9: What is the second most common cause of genetic intellectual disability? _____

Answer: Fragile X syndrome (#1 is Down syndrome)

Flashcard 10: Hunter's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatemild: developmental delay, gargoylism, airway obstruction, hepatosplenomegaly + aggressive behavior - corneal clouding XRiduronate sulfatase