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Background <p>Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs). DSDs are a diverse group of heterogeneous rare diseases that can be categorized into three main groups. 46,XY, complete gonadal dysgenesis is a subgroup of 46,XY, DSD that appears as female phenotype and external genitalia characterized by primary amenorrhea at adolescent.</p> Case presentation <p>Here, we present a 14-year-old female patient with structural rearrangements of the Y chromosome including <i>SRY</i> gene duplication. These chromosomes were characterized by karyotyping, Oligo-array comparative genomic hybridization (CGH), metaphase fluorescence in situ hybridization (FISH), and exome sequencing (ES). The mechanism(s) by which these rearrangements could have occurred is discussed.</p> Conclusions <p>46,X, idic(Y)(p11.32→q11.22:: q11.22→p11.32)] in this proband led to a large copy-number change including 24.5&#xa0;Mb gain on the Yp11.32q11.223 region and a 33&#xa0;Mb loss on the Yq11.223q11.23 region.</p>

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Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月30日

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  • Arash Salmaninejad,
  • Zahra Yaghoubi,
  • Tahereh Haghzad,
  • Maryam Latifi,
  • Reza Bayat,
  • Somaye Esnaashari,
  • Setila Dalili

摘要

Background

Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs). DSDs are a diverse group of heterogeneous rare diseases that can be categorized into three main groups. 46,XY, complete gonadal dysgenesis is a subgroup of 46,XY, DSD that appears as female phenotype and external genitalia characterized by primary amenorrhea at adolescent.

Case presentation

Here, we present a 14-year-old female patient with structural rearrangements of the Y chromosome including SRY gene duplication. These chromosomes were characterized by karyotyping, Oligo-array comparative genomic hybridization (CGH), metaphase fluorescence in situ hybridization (FISH), and exome sequencing (ES). The mechanism(s) by which these rearrangements could have occurred is discussed.

Conclusions

46,X, idic(Y)(p11.32→q11.22:: q11.22→p11.32)] in this proband led to a large copy-number change including 24.5 Mb gain on the Yp11.32q11.223 region and a 33 Mb loss on the Yq11.223q11.23 region.