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


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.

SUBMITTER: Cordes Selby S 

PROVIDER: S-EPMC8136447 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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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 S   Iwata-Otsubo Aiko A   Delk Paula P   Nebesio Todd D TD   Gohil Anisha A   Matlock Peggy P   Torres-Martinez Wilfredo W   Vance Gail H GH  

Clinical case reports 20210506 5


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. ...[more]

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