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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2009
Sujets:
Case report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799424/
https://ncbi.nlm.nih.gov/pubmed/20003197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-26
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires