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

Abstract 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 i...

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Bibliographic Details
Main Authors: Jakeline Santos Oliveira, Tatiana Mozer Joaquim, Rosana Aparecida Bicudo da Silva, Deise Helena de Souza, Lúcia Regina Martelli, Danilo Moretti-Ferreira
Format: Article
Language:English
Published: Sociedade Brasileira de Genética
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005034101&lng=en&tlng=en