22q11.2 deletion syndrome — Flashcards

Flashcard 1: DiGeorge syndrome is characterized by an absent _____ on CXR

Answer: thymic shadow

Flashcard 2: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____

Answer: Williams syndrome

Flashcard 3: _____ is a congenital heart disease characterized by drainage of pulmonary veins into the right circulation

Answer: Total anomalous pulmonary venous return (TAPVR)

Flashcard 4: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann

Flashcard 5: Most patients with truncus arteriosus have accompanying _____ defect

Answer: ventricular septal

Flashcard 6: Hunter's syndrome

Answer:

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

Flashcard 7: Hurler's syndrome

Answer:

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

Flashcard 8: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 9: Williams syndrome

Answer:

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

Flashcard 10: Prader-Willi syndrome

Answer:

Extra: mental retardation, hyperphagia, obesity, hypogonadism, hypotoniaimprinting disease; defect in the paternal genespaternal chromosome 15