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Licensed Unlicensed Requires Authentication Published by De Gruyter August 12, 2022

Association between clinical variations and copy number variations in cases with Turner syndrome

Ezgi Aksoy, Ozgur Cogulu, Erhan Pariltay, Samim Ozen, Aysun Ata, Emin Karaca and Sukran Darcan



Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most important characteristic findings of TS. Turner syndrome karyotypes include monosomy X, mosaic structure and X chromosome structural anomalies. Genotypic and phenotypic characteristics vary among cases. This study aimed to evaluate the clinical variations observed in TS cases with the copy number variations (CNV) detected by microarray study.


Fifty-three patients diagnosed with TS, between the ages of 0–18 were included in the study. Peripheral blood samples were taken from 36 cases for microarray study.


Karyotypes were as follows: thirty-three of cases were 45,X, 7 were 45,X/46,XX, 6 were 45,X/46,Xi(Xq), 2 were 46,Xi(Xq), 2 were 45,X/46,r(X), 1 was 45,X/46,Xi(Xp), 1 was 45,X/46,XY and 1 was 45,X/46,X+mar(idicY) karyotype. A significant correlation was found between karyotype groups and FSH values of the cases (p=0.034). In monosomy X and mosaic isochromosome Xq cases, the FSH value was found to be significantly higher than those with 45,X/46,XX mosaic karyotype. CNVs were found in 8 (22.2%) out of 36 cases whose microarray study was performed. Unexpected atypical findings were discussed in the light of the characteristics of CNVs.


In conclusion, the microarray method has a great contribution in explaining many unexpected findings in TS cases. Moreover, those CNV findings may contribute for the explanation of the underlying mechanisms of those anomalies.

Corresponding author: Samim Özen, MD, PhD, Department of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Ege University, 35100, Izmir, Turkey, E-mail:

Funding source: Ege Üniversitesi

Award Identifier / Grant number: TGA-2020-20851

  1. Research funding: This work was supported by the University of Ege ‘Scientific Research Projects Committee’ by Project code TGA-2020-20851.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. Ezgi Aksoy: Methodology, conceptualization, writing. Ozgür Cogulu: Investigation, conceptualization. Erhan Pariltay: Soft-ware, investigation. Samim Özen: Methodology, supervision. Emin Karaca: Writing-reviewing, editing. Aysun Ata: Investigation. Sukran Darcan: Project administration.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Written informed consent was obtained from all cases (or their parents if the case was younger than 18 years) included in the study.

  5. Ethical approval: The present study was approved by the Ege University Medical Center Ethics Committee.


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Received: 2022-03-23
Accepted: 2022-07-14
Published Online: 2022-08-12
Published in Print: 2022-09-27

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