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Abstract To analyze one Turner syndrome patient without relevant clinical symptoms, and to provide the references for the clinicians to identify the patient with skewed X-chromosome inactivation. Methods: The peripheral blood samples of one patient with primary infertility for 3 years, and her husband and parents were collected for the chromosome karyotype analysis and the female chromosomal copy number variations (CNVs), and the genetic analysis was conducted. Results: The chromosome karyotype in the peripheral blood of the patient with the primary infertility was 46, X, del(X) (q22.3), and the chromosome karyotype results of her parents and husband were normal. The CNV results of the patient indicated that the deletion of Xq22.3-q27.3 was 40.62Mb, and which was a pathogenic change. The ratio of the missing skewed X-chromosome inactivation of this patient was 98:2, and which indicated that this patient with the extreme skewed X-chromosome inactivation. Conclusion: The clinicians should consider the possibility of the women with skewed X-chromosome inactivation, so the patients with the chromosome abnormalities should be found as early as possible to avoid the risk of their fertility and their neonatal birth defects.
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