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

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

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

Afiliación

Cordes Selby S; Community Health Network, Maternal-Fetal Medicine Indianapolis IN USA.
Iwata-Otsubo A; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Delk P; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Nebesio TD; Division of Pediatric Endocrinology/Diabetology Department of Pediatrics Indiana University School of Medicine Indianapolis IN USA.
Gohil A; Division of Pediatric Endocrinology/Diabetology Department of Pediatrics Indiana University School of Medicine Indianapolis IN USA.
Matlock P; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Torres-Martinez W; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Vance GH; Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.

Clin Case Rep ; 9(5): e04141, 2021 May.

Article en En | MEDLINE | ID: mdl-34026173

ABSTRACT

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.

Palabras clave

3p duplication; 9p deletion; DMRT1; disorders of sex development

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