A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum
- 1 October 1994
- journal article
- case report
- Published by Wolters Kluwer Health in Clinical Dysmorphology
- Vol. 3 (4) , 296-6
- https://doi.org/10.1097/00019605-199410000-00003
Abstract
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 the previously reported patient with an overlapping deletion suggests an additional locus for this malformation.Keywords
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