Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

BACKGROUND: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancyt...

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Detalles Bibliográficos
Autores principales: Manolakos, Emmanouil, Orru, Sandro, Neroutsou, Rosita, Kefalas, Konstantinos, Louizou, Eirini, Papoulidis, Ioannis, Thomaidis, Loretta, Peitsidis, Panagiotis, Sotiriou, Sotirios, Kitsos, George, Tsoplou, Panagiota, Petersen, Michael B, Metaxotou, Aikaterini
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799424/
https://www.ncbi.nlm.nih.gov/pubmed/20003197
http://dx.doi.org/10.1186/1755-8166-2-26

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