Fragile X syndrome — Flashcards

Flashcard 1: -thalassemia due to a four gene deletion causes _____ (lethal in utero)

Answer: hydrops fetalis

Flashcard 2: What newborn screening blood test is used to screen for cystic fibrosis? _____

Answer: Immunoreactive trypsinogen

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

Answer: Kallmann

Flashcard 4: What is the most common cause of genetic intellectual disability? _____

Answer: Down syndrome

Flashcard 5: Rett syndrome presents with _____, including loss of development and verbal abilities

Answer: regression

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