Open AccessComplex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome
Author(s) -
Alexandra Galvão Gomes,
Carlos Henrique Paiva Grangeiro,
Luiz R. Silva,
Flávia Gaona Oliveira-Gennaro,
Ciro Silveira Pereira,
Tatiana Mozer Joaquim,
Rodrigo Alexandre Panepucci,
Jeremy A. Squire,
Lúcia Regina Martelli
Publication year - 2016
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000452681
Subject(s) - haploinsufficiency , genetics , phenotype , proband , gene , fli1 , chromosome , biology , context (archaeology) , mutation , chromosomal translocation , paleontology
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.