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Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

BACKGROUND: Genotype-phenotype correlations for chromosomal imbalances are often limited by overlapping effects of partial trisomy and monosomy resulting from unbalanced translocations and by poor resolution of banding analysis for breakpoint designation. Here we report the clinical features of isol...

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Detalles Bibliográficos
Autores principales: Weimer, Jörg, Heidemann, Simone, von Kaisenberg, Constantin S, Grote, Werner, Arnold, Norbert, Bens, Susanne, Caliebe, Almuth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261807/
https://www.ncbi.nlm.nih.gov/pubmed/22136633
http://dx.doi.org/10.1186/1755-8166-4-28