A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal
dc.contributor.author | Selby, Susan Cordes | |
dc.contributor.author | Iwata-Otsubo, Aiko | |
dc.contributor.author | Delk, Paula | |
dc.contributor.author | Nebesio, Todd D. | |
dc.contributor.author | Gohil, Anisha | |
dc.contributor.author | Matlock, Peggy | |
dc.contributor.author | Torres-Martinez, Wilfredo | |
dc.contributor.author | Vance, Gail H. | |
dc.contributor.department | Medical and Molecular Genetics, School of Medicine | en_US |
dc.date.accessioned | 2022-10-20T17:00:41Z | |
dc.date.available | 2022-10-20T17:00:41Z | |
dc.date.issued | 2021-05-06 | |
dc.description.abstract | Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal. | en_US |
dc.eprint.version | Final published version | en_US |
dc.identifier.citation | Cordes Selby S, Iwata-Otsubo A, Delk P, et al. A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal. Clin Case Rep. 2021;9(5):e04141. Published 2021 May 6. doi:10.1002/ccr3.4141 | en_US |
dc.identifier.uri | https://hdl.handle.net/1805/30380 | |
dc.language.iso | en_US | en_US |
dc.publisher | Wiley | en_US |
dc.relation.isversionof | 10.1002/ccr3.4141 | en_US |
dc.relation.journal | Clinical Case Reports | en_US |
dc.rights | Attribution-NonCommercial 4.0 International | * |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0 | * |
dc.source | PMC | en_US |
dc.subject | 3p duplication | en_US |
dc.subject | 9p deletion | en_US |
dc.subject | DMRT1 | en_US |
dc.subject | Disorders of sex development | en_US |
dc.title | A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal | en_US |
dc.type | Article | en_US |