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Clin Dysmorphol. 1994 Oct;3(4):292-6.

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

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Istituto di Genetica Medica, Facolt√° di Medicina e Chirurgia A. Gemelli, Universit√° Cattolica del Sacro Cuore, Rome, Italy.


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.

[Indexed for MEDLINE]

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