Down syndrome — Flashcards

Flashcard 1: _____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Answer: Ebstein anomaly

Flashcard 2: Is omphalocele associated with chromosomal abnormalities?_____

Answer: Yes

Flashcard 3: Down syndrome patients often develop Alzheimer disease by age _____

Answer: 40

Flashcard 4: What chromosomal abnormality is commonly associated with endocardial cushion defects? _____

Answer: Trisomy 21 (Down syndrome)

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

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

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