Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome

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Veröffentlicht in:	American journal of medical genetics. Part A 2010-05, Vol.152A (5), p.1314-1317
Hauptverfasser:	Mosca, A.L., Callier, P., Masurel-Paulet, A., Thauvin-Robinet, C., Marle, N., Nouchy, M., Huet, F., Dipanda, D., De Paepe, A., Coucke, P., Mugneret, F., Faivre, L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosomes, Artificial, Bacterial - genetics Chromosomes, Human, Pair 6 - genetics Classical genetics, quantitative genetics, hybrids Comparative Genomic Hybridization Developmental Disabilities - complications Developmental Disabilities - genetics Ehlers-Danlos Syndrome - complications Ehlers-Danlos Syndrome - genetics Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Human Humans Infant Infant, Newborn Karyotyping Medical genetics Medical sciences Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
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