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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Détails bibliographiques
Auteurs principaux: Genesio, Rita, Ronga, Valentina, Castelluccio, Pia, Fioretti, Gennaro, Mormile, Angela, Leone, Graziella, Conti, Anna, Cavaliere, Maria Luigia, Nitsch, Lucio
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3737039/
https://ncbi.nlm.nih.gov/pubmed/23915422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-29
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