Genetic counseling principles — Flashcards

Flashcard 1: Congenital defects are the _____ leading cause of death in children

Answer: 3rd

Flashcard 2: Is dysplastic kidney heritable? _____

Answer: No

Flashcard 3: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann

Flashcard 4: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth

Answer: 1

Flashcard 5: What is the most common cause of genetic intellectual disability? _____

Answer: Down syndrome

Flashcard 6: Red flags for physical abuse include _____ inconsistent with degree or type of injury

Answer: history

Flashcard 7: Hunter's syndrome

Answer:

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

Flashcard 8: Hurler's syndrome

Answer:

Extra: accumulation of heparan/dermatan sulfatedevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegalyARα-L-iduronidase

Flashcard 9: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 10: Williams syndrome

Answer:

Extra: elfin facies, mild retardation, hyper-verbal, hyper-friendly, diverse cardiovascular problemshypercalcemia7q microdeletion (including elastin gene)