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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2008
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On-line přístup: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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