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

Internet

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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