[Intercalary de novo deletion of chromosome 1: del(1) (q24 to q32)]

Abstract

We present one unrelated girl with a de novo interstitial deletion of a segment in the long arm of chromosome 1 (q24----q32). Comparison of the phenotypic characteristics of this proband with those of six previously described patients with similar deletion, does not suggest the existence of a 1q interstitial deletion syndrome. Clinical manifestations of these patients are variable and non specific: intrauterine growth retardation, low set ears, height and weight failure and mental retardation, clinodactyly of the fifth fingers. Other well detailed cases will be necessary to prove the existence of a 1 q interstitial deletion syndrome (q24----q32).