We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum / M. Genuardi;F. Calvieri;C. Tozzi;R. Coslovi;G. Neri. - In: CLINICAL DYSMORPHOLOGY. - ISSN 0962-8827. - STAMPA. - 3:(1994), pp. 292-296.