Risks with Translocation in "Typus Edinburgensis"

Abstract

To the Editor.—

In 1974 Habel¹ described five infants in an Edinburgh family with dysmorphic facial features, developmental delay, and early demise. He called the condition "Typus Edinburgensis" and suggested it was due to an undetected chromosome abnormality.

Now, 17 years later, Laing et al² have studied this Edinburgh family further using high resolution chromosome banding and found a translocation between chromosomes 1 and 2. The "Typus Edinburgensis" results from adjacent segregation of this translocation causing duplication of the segment from 1q42.3 to 1qter and deletion of the segment from 2q37.1 to 2qter.