Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Although 22q terminal deletions are well documented, very few patients with mosaicism have been reported. We describe two new cases with mosaic 22q13.2-qter deletion, detected by karyotype analysis, showing the neurological phenotype of 22q13.3 deletion syndrome. Case 1 represents an exceptional cas...

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Detalhes bibliográficos
Main Authors: Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, Bigoni, Stefania, Sensi, Alberto, Baroncini, Anna, Capucci, Antonella, De Agostini, Cristina, Gwilliam, Rhian, Deloukas, Panos, Dunham, Ian, Zuffardi, Orsetta
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2008
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2682770/
https://ncbi.nlm.nih.gov/pubmed/18854866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.195
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