The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

BACKGROUND: About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. Rare familial BCRs segregating with clinical features are a powerful source for...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Fonseca, Ana Carolina S., Bonaldi, Adriano, Fonseca, Simone A. S., Otto, Paulo A., Kok, Fernando, Bak, Mads, Tommerup, Niels, Vianna-Morgante, Angela M.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696321/
https://ncbi.nlm.nih.gov/pubmed/26719771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0205-9
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