Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The exact region of the deletion was difficult to be determined before the use of mol...

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Détails bibliographiques
Publié dans:Mol Cytogenet
Auteurs principaux: Papoulidis, Ioannis, Paspaliaris, Vassilis, Siomou, Elisavet, Orru, Sandro, Murru, Roberta, Sifakis, Stavros, Nikolaidis, Petros, Garas, Antonios, Sotiriou, Sotirios, Thomaidis, Loretta, Manolakos, Emmanouil
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4574176/
https://ncbi.nlm.nih.gov/pubmed/26388939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0175-y
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