A 6.9Mb 1qter deletion/4.4Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis

Autor:	Bruno Delobel, Bénédicte Duban-Bedu, Louis Vallée, Anne Dieux-Coeslier, Sylvie Joriot-Chekaf, Joris Andrieux, Jean-Christophe Cuvellier, Sylvie Manouvrier-Hanu
Rok vydání:	2008
Předmět:	congenital hereditary and neonatal diseases and abnormalities Candidate gene Microcephaly Vermis hypoplasia Corpus Callosum Agenesis General Medicine Anatomy Biology medicine.disease AKT3 Hypoplasia Gene duplication Genetics medicine medicine.symptom Genetics (clinical) Micropolygyria
Zdroj:	European Journal of Medical Genetics. 51:87-91
ISSN:	1769-7212
DOI:	10.1016/j.ejmg.2007.10.004
Popis:	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.
Databáze:	OpenAIRE
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