Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic feature...

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Main Authors: Kariminejad, Ariana, Kariminejad, Roxana, Moshtagh, Azadeh, Zanganeh, Maryam, Kariminejad, Mohammad Hassan, Neuenschwander, Stefan, Okoniewski, Michal, Wey, Eva, Schinzel, Albert, Baumer, Alessandra
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083628/
https://ncbi.nlm.nih.gov/pubmed/21326286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.252
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