Project description:Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome we investigated 130 regions which we hypothesized as candidates for novel genomic disorders 1. We tested 290 patients with mental retardation by BAC array CGH, identifying sixteen pathogenic rearrangements, including four patients with de novo microdeletions of 17q21.31. Using oligonucleotide arrays we refined the breakpoints of this microdeletion, defining a 478 kb critical region containing six genes that were deleted in all four cases. The breakpoints of this deletion, and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 were mapped to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are also sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions. Keywords: BAC comparative genomic hybridization of individuals with mental retardation and congenital anomalies

2006-08-10 | GSE5373 | GEO

Germ cell tumor and associated hematologic malignancies

Project description:Germ cell tumor and associated hematologic malignancies

| PRJNA660496 | ENA

Germ cell tumor and associated hematologic malignancies

Project description:Germ cell tumor and associated hematologic malignancies

| PRJNA660497 | ENA

Natural Killer Cell Therapies for Hematologic Malignancies

Project description:Natural Killer Cell Therapies for Hematologic Malignancies

| PRJNA776383 | ENA

Natural Killer Cell Therapies for Hematologic Malignancies

Project description:Natural Killer Cell Therapies for Hematologic Malignancies

| PRJNA776384 | ENA

Integrated genomic and gene expression profiling identifies two major gene/genomic circuits operating in urothelial carcinoma (genomic)

Project description:Genomic and gene expression profiling identifies two major gene/genomic circuits operating in urothelial carcinoma

2012-06-18 | GSE32535 | GEO

Genomic profiling of Brazilian gliomas

Project description:The aim of this study was to perform a genomic profiling of gliomas of Brazilian origin, using array-CGH, MSI analysis and to associate the genomic alterations with TERT and IDH1 mutation status, and correlate the molecular features with clinicopathological characteristics.

2016-05-09 | GSE71538 | GEO

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