PEDIATRICS Vol. 93 No. 5 May 1994, pp. 826-827
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A Practical Application of Fluorescent in Situ Hybridization to the Wolf-Hirschhorn Syndrome

K. Fagan Bagric HGSA CC1, P. Colley BSc1, and M. Partington MB BS, PhD, FRCP1

1 Division of Molecular and Cell Biology, Hunter Area Pathology Service, John Hunter Hospital and Regional Medical Genetics Unit, Newcastle, NSW, Australia

We have confirmed the practical utility of this relatively inexpensive method in the investigation of a patient with the clinical diagnosis of the Wolf- Hirschhorn syndrome. Not only was the diagnosis confirmed, but there is also the possibility of future reliable prenatal diagnosis in this family. The method of choice for prenatal diagnosis in future pregnancies is FISH, because this enables identification of carrier status as well as all unbalanced forms of the translocation.

Submitted on September 8, 1993
Accepted on November 3, 1993