Genetic Testing in Pediatrics — Flashcards

Flashcard 1: _____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.

Answer: DiGeorge Syndrome

Flashcard 2: The features of a chromosome 22q11 microdeletion may be remembered with the mnemonic "CATCH 22": C: _____A: Abnormal faciesT: Thymic aplasia C: Conotruncal abnormalities (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch) H: Hypocalcemia (lack of parathyroids)

Answer: Cleft palate

Flashcard 3: Which genomic test would be helpful in evaluating suspected DiGeorge Syndrome?_____

Answer: FISH

Flashcard 4: What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Answer: PCR

Flashcard 5: Monosomy 1p36 syndrome is associated with what head circumference abnormality?

Answer: Microcephaly

Flashcard 6: In a small fraction of patients with normal cytogenetic studies, targeted evaluation of DiGeorge locus genes, such as _____, may be indicated.

Answer: TBX1

Flashcard 7: Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

Answer: micro

Flashcard 8: What is the most common genetic cause of intellectual disability (mental retardation)?

Answer: Down syndrome (Trisomy 21)

Extra: - Most common **genetic/chromosomal** cause: Down syndrome. - Most common **inherited** cause: Fragile X syndrome.

Flashcard 9: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia

Answer: Alagille