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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Pubblicato in:Mol Cytogenet
Autori principali: Fonseca, Ana Carolina S., Bonaldi, Adriano, Fonseca, Simone A. S., Otto, Paulo A., Kok, Fernando, Bak, Mads, Tommerup, Niels, Vianna-Morgante, Angela M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Case Report
Accesso online: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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