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Chromosomal rearrangements
Original research
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis

Authors

  • Jakob A Meinel Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, Universität zu Lübeck, Lubeck, Germany PubMed articlesGoogle scholar articles
  • Verónica Yumiceba Institute of Human Genetics, Universität zu Lübeck, Lübeck, Germany PubMed articlesGoogle scholar articles
  • Axel Künstner Group of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, Universität zu Lübeck, Lübeck, GermanyInstitute for Cardiogenetics, Universität zu Lübeck, Lübeck, Germany PubMed articlesGoogle scholar articles
  • Kristin Schultz Institute of Human Genetics, Universität zu Lübeck, Lübeck, Germany PubMed articlesGoogle scholar articles
  • Nathalie Kruse Institute of Human Genetics, Universität zu Lübeck, Lübeck, Germany PubMed articlesGoogle scholar articles
  • Frank J Kaiser Institute of Human Genetics, Universität Duisburg-Essen, Duisburg, GermanyEssen Center for Rare Diseases (EZSE), University Hospital Essen, Essen, Germany PubMed articlesGoogle scholar articles
  • Paul-Martin Holterhus University Medical Center for Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine I, Universitätsklinikum Schleswig-Holstein, Kiel, Germany PubMed articlesGoogle scholar articles
  • Alexander Claviez Department of Pediatrics and Adolescent Medicine I, Division of Pediatric Oncology and Hematology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany PubMed articlesGoogle scholar articles
  • Olaf Hiort Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, Universität zu Lübeck, Lubeck, Germany PubMed articlesGoogle scholar articles
  • Hauke Busch Group of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, Universität zu Lübeck, Lübeck, GermanyInstitute for Cardiogenetics, Universität zu Lübeck, Lübeck, Germany PubMed articlesGoogle scholar articles
  • Malte Spielmann Institute of Human Genetics, Universität zu Lübeck, Lübeck, GermanyPartner Site Hamburg/Kiel/Lübeck, German Center for Cardiovascular Disease, Berlin, Germany PubMed articlesGoogle scholar articles
  • Ralf Werner Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, Universität zu Lübeck, Lubeck, GermanyInstitute of Molecular Medicine, Universität zu Lübeck, Lübeck, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Ralf Werner, Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, Universität zu Lübeck, Lübeck 23562, Germany; ralf.werner{at}uni-luebeck.de
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Citation

Meinel JA, Yumiceba V, Künstner A, et al
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis
Journal of Medical Genetics 2023;60:469-476.

Publication history

  • Received April 29, 2022
  • Accepted August 25, 2022
  • First published September 9, 2022.
Online issue publication 
May 11, 2023

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.