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| Oliveira,Jakeline Santos; Joaquim,Tatiana Mozer; Silva,Rosana Aparecida Bicudo da; Souza,Deise Helena de; Martelli,Lúcia Regina; Moretti-Ferreira,Danilo. |
| 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 in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Duplication 12p; Array-CGH; Facial dysmorphism. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103 |
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