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

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 correl...

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Detalles Bibliográficos
Autores principales: Alhalabi, Mohammad Marwan, Kakaje, Ameer, Alhalabi, Marwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10571383/
https://www.ncbi.nlm.nih.gov/pubmed/37828559
http://dx.doi.org/10.1186/s13256-023-04137-z
Descripción
Sumario: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.