Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease Phenotype

Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease Phenotype

De novo balanced chromosomal aberrations (BCAs), such as reciprocal translocations and inversions, are genomic aberrations that, in approximately 25% of cases, affect the human phenotype. Delineation of the exact structure of BCAs may provide a precise diagnosis and/or point to new disease loci. We...

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Bibliographic Details
Main Authors: Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:Journal of Clinical Medicine
Subjects:
<i>EPHA6</i>
<i>KLF13</i>
<i>UBR3</i>
de novo balanced aberrations
mate-pair sequencing
developmental delay
Online Access:https://www.mdpi.com/2077-0383/9/5/1245

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https://www.mdpi.com/2077-0383/9/5/1245

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