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Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern |
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| Authors: | Anna Podolska Albrecht Kobelt Sigrid Fuchs Karl Hackmann Andreas Rump Evelin Schröck Kerstin Kutsche Nataliya Di Donato |
| Affiliation: | 1. Institute of Human Genetics, University Medical Center Hamburg‐Eppendorf, Hamburg, Germany;2. Praxis für Humangenetik, Chemnitz, Germany;3. Institute for Clinical Genetics, TU Dresden, Dresden, Germany |
| Abstract: | |
| Keywords: | cerebellar hypoplasia microdeletion 6q27 X autosome translocation X‐inactivation |