Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

BACKGROUND: Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome...

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Библиографические подробности
Главные авторы: Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2011
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3058102/
https://ncbi.nlm.nih.gov/pubmed/21345209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-4-6
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