Newborn Screening — Flashcards

Flashcard 1: Which genomic test would be helpful in evaluating suspected DiGeorge Syndrome?_____

Answer: FISH

Flashcard 2: Is irritability and crying an inherent feature of inborn errors of metabolism?_____

Answer: No

Flashcard 3: What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Answer: PCR

Flashcard 4: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 5: What may be an early marker of Hunter's syndrome?_____

Answer: Extensive mongolian spots

Flashcard 6: _____ disease is also known as infantile cortical hyperostosis.

Answer: Caffey s

Flashcard 7: 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 8: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy

Flashcard 9: The majority of cases of _____ syndrome are caused by de novo mutations in meCP2

Answer: Rett

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

Answer: Alagille