Klinefelter syndrome — Flashcards

Flashcard 1: Ovotesticular disorder of sex development, also known as true _____, is the presence of both ovarian and testicular tissue

Answer: hermaphroditism

Flashcard 2: What pathology is associated with an enlarged jaw, testes, and ears?_____

Answer: Fragile X syndrome

Flashcard 3: Clinical features of _____ syndrome include short height, small head circumference, facies with saddle nose and prominent forehead, small genitalia, and delayed skeletal maturation

Answer: Laron

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

Answer: Kallmann

Flashcard 5: Hunter's syndrome

Answer:

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

Flashcard 6: Hurler's syndrome

Answer:

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

Flashcard 7: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 8: Williams syndrome

Answer:

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

Flashcard 9: Prader-Willi syndrome

Answer:

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

Flashcard 10: X-linked recessive

Answer: yes, but only through females

Extra: many more males affectedno male-to-male transmission