Journal of Medical Case Reports (Oct 2023)

Hereditary chromosomal 9 inversion (p22q13) 9 as a cause for recurrent pregnancy loss: a case report

  • Mohammad Marwan Alhalabi,
  • Ameer Kakaje,
  • Marwan Alhalabi

DOI
https://doi.org/10.1186/s13256-023-04137-z
Journal volume & issue
Vol. 17, no. 1
pp. 1 – 8

Abstract

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Abstract Background Chromosomal aberrations are as common as 13.8% in the infertile population. The incidence of pericentric inversion of chromosome 9 is approximately 1–3%. However, although these inversions do not alternate phenotype, there have been conflicting data about their effect as they were correlated with infertility, recurrent pregnancy loss, and deceased children, with no clear evidence of the inversions being the causative factor for these events. Case presentation We report a case report of an Arab family with many members with inv(9)(p22q13). Our proband male aged 35 years at time of presentation with primary infertility. Some members, such as a brother aged 34 years, who had this inversion suffered from recurrent pregnancy loss while other members of similar reproductive age did not. Conclusions inv(9)(p22q13) might be a hereditary anomaly that might be a risk factor for recurrent pregnancy loss in its members.

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