A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal

Susan Cordes Selby; Aiko Iwata-Otsubo; Paula Delk; Todd D Nebesio; Anisha Gohil; Peggy Matlock; Wilfredo Torres-Martinez; Gail H Vance

doi:10.1002/ccr3.4141

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 May 6;9(5):e04141. doi: 10.1002/ccr3.4141. eCollection 2021 May.

Authors

Susan Cordes Selby¹, Aiko Iwata-Otsubo², Paula Delk², Todd D Nebesio³, Anisha Gohil³, Peggy Matlock², Wilfredo Torres-Martinez², Gail H Vance²

Affiliations

¹ Community Health Network, Maternal-Fetal Medicine Indianapolis IN USA.
² Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
³ Division of Pediatric Endocrinology/Diabetology Department of Pediatrics Indiana University School of Medicine Indianapolis IN USA.

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.

Keywords: 3p duplication; 9p deletion; DMRT1; disorders of sex development.

Publication types

Case Reports

Grants and funding

T32 DK065549/DK/NIDDK NIH HHS/United States