22q11.2 deletion syndrome — Flashcards

Flashcard 1: DiGeorge syndrome is characterized by an absent _____ on CXR

Answer: thymic shadow

Flashcard 2: What microdeletion syndrome is associated with supravalvular aortic stenosis and renal artery stenosis?_____

Answer: Williams syndrome

Flashcard 3: _____ is a congenital heart disease characterized by drainage of pulmonary veins into the right circulation

Answer: Total anomalous pulmonary venous return (TAPVR)

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

Answer: Kallmann

Flashcard 5: Most patients with truncus arteriosus have accompanying _____ defect

Answer: ventricular septal

Flashcard 6: 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 7: 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 8: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 9: 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

Flashcard 10: Clinical features and genetic defect in Prader-Willi syndrome?

Answer: Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

Extra: Paternal deletion or mutation on chromosome 15 (15q11-q13). Since the maternal copy is normally silenced (imprinted), the loss of the paternal allele leads to disease.