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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Vincent Gatinois | Nicole Bigi | Eve Mousty | Jean Chiesa | Yuri Musizzano | Anouck Schneider | Geneviève Lefort | Lucile Pinson | Jean-Baptiste Gaillard | Clémence Ragon | Marie-Josée Perez | Magali Tournaire | Patricia Blanchet | Carole Corsini | Emmanuelle Haquet | Patrick Callier | David Geneviève | Franck Pellestor | Jacques Puechberty
Molecular genetics & genomic medicine | 2019

Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well-documented description of a complete tetrasomy 21 in the literature.

Pubmed ID: 31493343

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Ikaros Project (tool)

RRID:SCR_007391

Ikaros is an open infrastructure for system level modeling of the brain including databases of experimental data, computational models and functional brain data. The system makes heavy use of the emerging standards for Internet based information and makes all information accessible through an open web-based interface. In addition, Ikaros can be used as a control architecture for robots which in the extension will lead to the development of a brain inspired robot architecture. The main components of the Ikaros systems are: a platform independent simulation kernel; a set of computational brain models; a set of I/O modules for interfacing with data files and peripheral such as robots or video cameras; tools for building systems of interconnected models; a plug-in architecture that allows new models to be easily added to the system; and a database with data from learning experiments that can be used for validation of the computational models.

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GeneMapper (tool)

RRID:SCR_014290

Genotyping software package that provides DNA sizing and quality allele calls for all Applied Biosystems electrophoresis-based genotyping systems. GeneMapper specializes in multiapplication functionality, including amplified fragment length polymorphism, loss of heterozygosity, microsatellite, and SNP genotyping analysis. The software provides remote auto-analysis and command line operation, and allows for multiuser, client-server deployment.

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