一对具有相同核型的兄妹：两例患有部分3p重复和部分9p缺失以及性反转的同胞病例报告。
A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.
作者信息
Cordes Selby Susan, Iwata-Otsubo Aiko, Delk Paula, Nebesio Todd D, Gohil Anisha, Matlock Peggy, Torres-Martinez Wilfredo, Vance Gail H
机构信息
Community Health Network, Maternal-Fetal Medicine Indianapolis IN USA.
Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
出版信息
Clin Case Rep. 2021 May 6;9(5):e04141. doi: 10.1002/ccr3.4141. eCollection 2021 May.
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.
两名具有相同男性不平衡核型的兄弟姐妹出现了性反转。年长的兄弟姐妹表型为女性，而年幼的兄弟姐妹表现为男性。女性患有性腺发育不全，双侧为卵睾。男性有双侧睾丸。该报告讨论了与性反转相关的表型差异和基因。
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