Oliveira, Jakeline Santos [UNESP]Joaquim, Tatiana Mozerda Silva, Rosana Aparecida Bicudo [UNESP]de Souza, Deise Helena [UNESP]Martelli, Lúcia ReginaMoretti-Ferreira, Danilo [UNESP]2020-12-122020-12-122020-01-01Genetics and Molecular Biology, v. 43, n. 1, 2020.1678-46851415-4757http://hdl.handle.net/11449/198667Duplication 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 patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The pa-tient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32engArray-CGHDuplication 12pFacial dysmorphismArtigo10.1590/1678-4685-GMB-2018-0285S1415-47572020000100103Acesso aberto2-s2.0-85082331071S1415-47572020000100103.pdf