Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida J C, Vargas F R, Llerena Júnior J C, Vogel W, Just W
Abteilung Medizinische Genetik, Universität Ulm, Germany.
Hum Genet. 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838.
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY,der(22),t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS.
Xp 染色体上包括剂量敏感型性反转（DSS）区域的重复会导致男性向女性的性反转。我们对来自两个患有 Xp 重复的家庭的两名患者进行了研究。第一个病例是一对核型为 46,XY,der(22),t(X;22)(p11.3;p11)mat 的姐妹中的一个，其具有明确的女性生殖器。存活的姐妹发育迟缓，表现出多种畸形特征和胼胝体发育不全综合征。第二个病例是一个男孩，其母亲遗传了 Xp21.3 - pter 的直接重复，断点靠近 DSS 基因座。他有多种异常和小阴茎，但除此之外具有明确的男性生殖器。我们使用来自 Xp22.13 至 p21.2 的探针进行了定量 Southern 印迹分析，以确定重复区域。将两名患者的临床、细胞遗传学和分子数据与先前报道的相关病例的数据进行了比较。对生殖器外症状的比较显示，有性反转和无性反转的患者之间没有差异。在这两个病例中，症状都是非特异性的。在 22 名 Xp 重复的患者中，9 名具有明确的女性生殖器且 DSS 区域有充分记录的重复。两名 DSS 重复的患者表现出外生殖器模糊。根据这些数据，我们得出结论，这些患者可能开始诱导睾丸组织形成，但生殖器的类型取决于 DSS 基因随后的退化程度。
