Newborn Screening — Flashcards

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

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

What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

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

_____ disease is also known as infantile cortical hyperostosis.

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

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

The abnormality of _____ syndrome is arterio-hepatic dysplasia