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Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patie...

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Detalles Bibliográficos
Autores principales:	Oliveira, Jakeline Santos, Joaquim, Tatiana Mozer, da Silva, Rosana Aparecida Bicudo, de Souza, Deise Helena, Martelli, Lúcia Regina, Moretti-Ferreira, Danilo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2020
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198023/ https://www.ncbi.nlm.nih.gov/pubmed/31429857 http://dx.doi.org/10.1590/1678-4685-GMB-2018-0285

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