Of 821 consecutive admissions to a paediatric intensive care unit, 47 (5.7%) were for chromosomal or monogenic disorders. These patients had more readmissions, longer mean stays, and a higher mortality rate than the group as a whole. In two of the four cases that died of single gene disorders, failure to store DNA made genetic counseling difficult.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1792940PMC
http://dx.doi.org/10.1136/adc.66.5.639DOI Listing

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