Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up

BACKGROUND: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype. CASE PRESENTATION: We report a clinical and cytog...

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Detalhes bibliográficos
Main Authors: Meloni, Vera Ayres, Takeno, Sylvia Satomi, Pilla, Ana Luiza, de Mello, Claudia Berlim, Melaragno, Maria Isabel, Kulikowski, Leslie Domenici
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4151026/
https://ncbi.nlm.nih.gov/pubmed/25184002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0057-8
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