一名患有行为障碍儿童的15号染色体镶嵌重复综合征（15q11.1-q13.2四体综合征）：病例报告 - Suppr

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超能文献

Mosaic 15q duplication syndrome (tetrasomy 15q11.1-q13.2) in a child with behavior disorders: case report.

作者信息

Rodrigues Maurício A, Dias Laura de F, Moreira Renata V, Ribeiro Patrícia D

机构信息

XY Diagnose Laboratório de Biotecnologia, Campos dos Goytacazes, RJ, Brazil.

Centro de Pediatria Lilia Neves (CEPLIN), Campos dos Goytacazes, RJ, Brazil.

出版信息

Braz J Psychiatry. 2019 Jan-Feb;41(1):93-95. doi: 10.1590/1516-4446-2018-0268.

DOI:10.1590/1516-4446-2018-0268

PMID:30758464

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6781697/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4fbe/6781697/66e8427fb893/bjp-41-01-93-g001.jpg

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本文引用的文献

A survey of seizures and current treatments in 15q duplication syndrome.

Epilepsia. 2014 Mar;55(3):396-402. doi: 10.1111/epi.12530. Epub 2014 Feb 6.

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Orphanet J Rare Dis. 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30.

Healthy 12-year-old boy with mosaic inv dup(15)(q13).

Am J Med Genet A. 2006 Mar 15;140(6):640-3. doi: 10.1002/ajmg.a.31118.

Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

Am J Hum Genet. 2003 Nov;73(5):1061-72. doi: 10.1086/379155. Epub 2003 Oct 14.

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