ArticleJournal of medical genetics2023
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.Prenatal diagnosis · 2026Article
- Chromosomal inversions modulate 3D chromatin interactions and regulatory architecture inResearch square · 2026Article
- Exonisation of an Alu element in the 3'-UTR contributes to SRD5A2 deficiency.Scientific reports · 2026Article
- Structural variants in the 3D genome as drivers of disease.Nature reviews. Genetics · 2025Review
- Review
- 46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.Translational pediatrics · 2024Article
- Expanding the phenotype of copy number variations involving NR0B1 (DAX1).European journal of human genetics : EJHG · 2024Article
- Targeting the chromatin structural changes of antitumor immunity.Journal of pharmaceutical analysis · 2024Review
- The past and future of "sex genes".Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Classic genetic and hormonal switches during fetal sex development and beyond.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Biomolecules · 2023Review
- Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal DysgenesisJournal of clinical research in pediatric endocrinology · 2023Article
- A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis withoutInternational journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of
methodsPatients with 46,XY GD were analysed by whole genome sequencing. Identified structural variants were confirmed by array CGH and analysed by high-throughput chromosome conformation capture (Hi-C).
resultsWe identified two unrelated patients: one showing a complex rearrangement upstream of
conclusionHere we present a general mechanism how deletions, duplications or inversions at the
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Registered trials
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