Turner syndrome — Flashcards

Flashcard 1: The infantile form of coarctation of the aorta is associated with _____ syndrome

Answer: Turner

Flashcard 2: Is omphalocele associated with chromosomal abnormalities?_____

Answer: Yes

Flashcard 3: Rett syndrome is almost exclusively seen in _____ (gender)

Answer: females

Flashcard 4: _____ is the isolated, temporary halting of skeletal growth in the absence of other causal physical abnormalities

Answer: Constitutional delay of growth and puberty

Flashcard 5: What pathology is associated with an enlarged jaw, testes, and ears?_____

Answer: Fragile X syndrome

Flashcard 6: Trisomy 13 _____ have overlapping fingers

Answer: does not (does / does not)

Flashcard 7: Enzyme deficiency and inheritance of Hunter syndrome?

Answer: Enzyme deficiency: Iduronate sulfatase Inheritance: X-linked recessive (XR)

Extra: - Accumulation of heparan sulfate and dermatan sulfate. - Clinical features: Developmental delay, gargoylism, airway obstruction, hepatosplenomegaly. - Distinctive features: Aggressive behavior, NO corneal clouding (unlike Hurler syndrome).

Flashcard 8: What is the enzyme deficiency in Hurler's syndrome?

Answer: Deficiency of α-L-iduronidase

Extra: • Inheritance: Autosomal Recessive (AR) • Accumulation of: Heparan sulfate and Dermatan sulfate • Clinical Features: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

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

Answer: cardiac, palate, facial defects

Flashcard 10: What is the genetic defect in Williams syndrome?

Answer: 7q11.23 microdeletion (including elastin gene)

Extra: Characteristics of Williams Syndrome: - Elfin facies - Intellectual disability (mild retardation) - Hyper-verbal / Cocktail party personality (hyper-friendly) - Cardiovascular problems: Supravalvular aortic stenosis (SVAS) - Idiopathic hypercalcemia in infancy