Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome

被引:0
作者
Gomes, Alexandra Galvao [1 ]
Paiva Grangeiro, Carlos H. [1 ,5 ]
Silva, Luiz R. [6 ]
Oliveira-Gennaro, Flavia G. [1 ]
Pereira, Ciro S. [7 ]
Joaquim, Tatiana M. [1 ]
Panepucci, Rodrigo A. [3 ,4 ]
Squire, Jeremy A. [1 ,2 ]
Martelli, Lucia [1 ,5 ]
机构
[1] Univ Sao Paulo, Dept Genet, Ribeirao Preto, Brazil
[2] Univ Sao Paulo, Dept Pathol & Forens Med, Ribeirao Preto, Brazil
[3] Univ Sao Paulo, Ctr Cell Based Therapy, Ribeirao Preto, Brazil
[4] Univ Sao Paulo, Reg Blood Ctr, Ribeirao Preto, Brazil
[5] Clin Hosp Ribeirao Preto, Div Clin Genet, Ribeirao Preto, Brazil
[6] Univ Fed Uberlandia, Pediat Clin, Uberlandia, MG, Brazil
[7] Sao Rafael Hosp, Ctr Biotechnol & Cell Therapy, Salvador, BA, Brazil
关键词
Comparative genomic hybridization; Deletion; 11q; FLI1; Jacobsen syndrome; Ring chromosome; Thrombocytopenia Paris-Trousseau type; THROMBOCYTOPENIA; DELETION; PATIENT; ARRAY;
D O I
10.1159/000452681
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous deletion. We investigated a boy with features of JBS using classic cytogenetic methods, FISH and high-resolution array CGH. The proband was found to have a mosaic ring chromosome 11 resulting in a hemizygous 11q terminal deletion of 8.6 Mb, leading to a copy number loss of 52 genes. The patient had a hemizygous deletion in the FLI1 gene region without apparent thrombocytopenia, and he developed diabetes mellitus type I, which has not previously been described in the spectrum of disorders associated with JBS. The relationship of some of the genes within the context of the phenotype caused by a partial deletion of 11q has provided insights concerning the developmental anomalies presented in this patient with atypical features of JBS. (C) 2016 S. Karger AG, Basel
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页码:45 / 49
页数:5
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