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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

BACKGROUND: Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo...

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Detalles Bibliográficos
Autores principales:	Genesio, Rita, Ronga, Valentina, Castelluccio, Pia, Fioretti, Gennaro, Mormile, Angela, Leone, Graziella, Conti, Anna, Cavaliere, Maria Luigia, Nitsch, Lucio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3737039/ https://www.ncbi.nlm.nih.gov/pubmed/23915422 http://dx.doi.org/10.1186/1755-8166-6-29

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