A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis |
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| Authors: | Andrieux Joris Cuvellier Jean-Christophe Duban-Bedu Bénédicte Joriot-Chekaf Sylvie Dieux-Coeslier Anne Manouvrier-Hanu Sylvie Delobel Bruno Vallee Louis |
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| Affiliation: | aLaboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, 2 Avenue Oscar Lambret, Lille 59000, France;bService de Neuropédiatrie, Hôpital Salengro, CHRU, Lille, France;cCentre de Génétique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France;dService de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France |
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| Abstract: | We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution oligonucleotide array-CGH, performed at the age of 4 years, allowed the characterisation of a de novo 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication. Numerous 1qter deletions have already been described associated with brain malformations. Among 1q44 deleted genes, AKT3 is the strongest candidate gene for vermis hypoplasia and corpus callosum agenesis. |
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| Keywords: | Array-CGH 1qter Deletion 18pter Duplication Microcephaly Simplified gyral pattern Vermis hypoplasia Corpus callosum agenesis AKT3 |
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