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Keywords: Deletion 11q
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Journal Articles
Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, Engin Atli, Selma Demir, Emine Ikbal Atli, Cisem Mail, Hakan Gurkan
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (3): 235–239.
Published Online: 01 February 2022
... Congenital heart disease Deletion 11q Jacobsen Syndrome is characterized by a deletion of chromosome 11, and there are several cases reported in the literature with classical findings. This is the first case with dextrocardia diagnosed as Jacobsen syndrome and not showing...
Journal Articles
Subject Area:
Topic Article Package: Diabetes
,
Topic Article Package: Diabetes 2017
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Alexandra Galvão Gomes, Carlos H. Paiva Grangeiro, Luiz R. Silva, Flávia G. Oliveira-Gennaro, Ciro S. Pereira, Tatiana M. Joaquim, Rodrigo A. Panepucci, Jeremy A. Squire, Lucia Martelli
Journal:
Molecular Syndromology
Mol Syndromol (2017) 8 (1): 45–49.
Published Online: 17 November 2016
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Ring chromosome Jacobsen syndrome Thrombocytopenia Paris-Trousseau type Comparative genomic hybridization Deletion...
Journal Articles
Etzalli P. Linares Chávez, Jaime Toral López, Juan M. Valdés Miranda, Luz M. González Huerta, Adrian Perez Cabrera, María del Refugio Rivera Vega, Olga M. Messina Baas, Sergio A. Cuevas-Covarrubias
Journal:
Molecular Syndromology
Mol Syndromol (2016) 6 (5): 229–235.
Published Online: 18 December 2015
..., instructions or products referred to in the content or advertisements. Craniosynostosis CytoScan HD array Deletion 11q Intellectual disability Jacobsen syndrome (JBS; OMIM 147791), also known as terminal 11q23.3q25 deletion, is an uncommon contiguous gene syndrome with about 200 cases reported...