Genetic counseling principles — Flashcards

Flashcard 1: Congenital defects are the _____ leading cause of death in children

Answer: 3rd

Flashcard 2: Is dysplastic kidney heritable? _____

Answer: No

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

Answer: Kallmann

Flashcard 4: Patients with Edwards syndrome and Patau syndrome often die within _____ year(s) of birth

Answer: 1

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

Answer: Down syndrome

Flashcard 6: Red flags for physical abuse include _____ inconsistent with degree or type of injury

Answer: history

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