Literature DB >> 3158893

[Agenesis of the corpus callosum in a man with complete mosaic trisomy 8].

F Baverel, J de Recondo, A Rouffet, D Fredy, A Salesses, P Rondot.   

Abstract

The coexistence in an epileptic patient of a radiologically confirmed agenesis of the corpus callosum and other somatic abnormalities, notably skeletal, prompted us to perform a karyotype which showed an extra chromosome 8. The trisomy 8-callosal agenesis association is not exceptional, but it may easily be missed owing to the absence or scarcity of clinical signs of the cerebral malformation. We would suggest that patients with confirmed agenesis of the corpus callosum should be investigated for trisomy 8 and conversely, that patients with trisomy 8 detected during examination for a characteristic malformative syndrome should be systematically investigated for abnormality of the neocortical commissure.

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Year:  1985        PMID: 3158893

Source DB:  PubMed          Journal:  Presse Med        ISSN: 0755-4982            Impact factor:   1.228


  3 in total

Review 1.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

Review 2.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

3.  Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Authors:  Chayim Can Schell-Apacik; Kristina Wagner; Moritz Bihler; Birgit Ertl-Wagner; Uwe Heinrich; Eva Klopocki; Vera M Kalscheuer; Maximilian Muenke; Hubertus von Voss
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802

  3 in total

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