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Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature

BACKGROUND: Autosomal monosomies in human are generally suggested to be incompatible with life; however, there is quite a number of cytogenetic reports describing full monosomy of one chromosome 21 in live born children. Here, we report a cytogenetically similar case associated with congenital malfo...

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Detalles Bibliográficos
Autores principales: Vorsanova, Svetlana G, Iourov, Ivan Y, Voinova-Ulas, Victoria Y, Weise, Anja, Monakhov, Victor V, Kolotii, Alexei D, Soloviev, Ilia V, Novikov, Petr V, Yurov, Yuri B, Liehr, Thomas
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442098/
https://www.ncbi.nlm.nih.gov/pubmed/18564437
http://dx.doi.org/10.1186/1755-8166-1-13