Interstitial deletion of the long arm of chromosome 2

Abstract

We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previously reported cases suggests the deletion 2q23q24 to be a clinically recognizable syndrome.