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A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum



A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum



Clinical Dysmorphology 3(4): 292-296



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.

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Accession: 045079238

Download citation: RISBibTeXText

PMID: 7894733

DOI: 10.1097/00019605-199410000-00003


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