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Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed tha...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Dixon, J W, Costa, T, Teshima, I E
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016239/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8423612/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.1.70
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