PEDIATRICS Vol. 71 No. 6 June 1983, pp. 960-963
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A Perimortem Protocol for Suspected Genetic Disease

Jonathan B. Kronick MD, PhD1, Charles R. Scriver MDCM, FRSC1, Paul R. Goodyer MD, FRCP1, and Paige B. Kaplan MB, BCh, FRCP1

1 From the Division of Medical Genetics and deBelle Laboratory for Biochemical Genetics, The McGill University-Montreal Children's Hospital Research Institute, Montreal

A considerable portion of pediatric deaths represent disease with risk of recurrence in subsequent family members. Procedures to obtain samples of body fluids and tissues suitable for diagnosis of mendelian and chromosomal disorders are described. These procedures, the "perimortem protocol," are used in studying children who died of suspected but undiagnosed genetic disease.

Key Words: death • genetic disease • mendelian disorder • chromosomal disorder

Submitted on November 3, 1982
Accepted on February 9, 1983