Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
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Data
2020-01-01
Autores
Oliveira, Jakeline Santos [UNESP]
Joaquim, Tatiana Mozer
da Silva, Rosana Aparecida Bicudo [UNESP]
de Souza, Deise Helena [UNESP]
Martelli, Lúcia Regina
Moretti-Ferreira, Danilo [UNESP]
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Resumo
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 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 → p13.32
Descrição
Palavras-chave
Array-CGH, Duplication 12p, Facial dysmorphism
Como citar
Genetics and Molecular Biology, v. 43, n. 1, 2020.