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Peer-reviewedCC BY-NC-NDInternal Medicine

A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature

Abstract

Turner syndrome is well defined as a sex chromosomal disorder that occurs when one of the two X chromosomes is missing or incomplete. The typical clinical features of Turner syndrome have been well defined, and some lesions of the Turner-associated phenotype have been identified. We herein report a case of Turner syndrome caused by a rare karyotype with translocation of the short arm of chromosome 7 to the X chromosome. The information obtained in this case will be useful for evaluating Turner syndrome in the future.

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BibTeX
@article{harada2026rare,
  title = {{A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature}},
  author = {Ayaka Harada and Takatoshi Anno and Yukiko Kimura and Kohei Kaku and Hideaki Kaneto},
  journal = {Internal Medicine},
  year = {2026},
  month = jul,
  doi = {10.2169/internalmedicine.6137-25},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6137-25/_article},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - A Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature
AU  - Ayaka Harada
AU  - Takatoshi Anno
AU  - Yukiko Kimura
AU  - Kohei Kaku
AU  - Hideaki Kaneto
PY  - 2026
DA  - 2026/07/15
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.6137-25
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6137-25/_article
AB  - Turner syndrome is well defined as a sex chromosomal disorder that occurs when one of the two X chromosomes is missing or incomplete. The typical clinical features of Turner syndrome have been well defined, and some lesions of the Turner-associated phenotype have been identified. We herein report a case of Turner syndrome caused by a rare karyotype with translocation of the short arm of chromosome 7 to the X chromosome. The information obtained in this case will be useful for evaluating Turner syndrome in the future.
SN  - 1349-7235
SN  - 0918-2918
ER  -