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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Publicado en:Mol Cytogenet
Autores principales: 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
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea: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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