Genes & Genomics

, Volume 40, Issue 5, pp 465–473 | Cite as

Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population

  • Rosa FernándezEmail author
  • Antonio Guillamón
  • Esther Gómez-Gil
  • Isabel Esteva
  • Mari Cruz Almaraz
  • Joselyn Cortés-Cortés
  • Beatriz Lamas
  • Estefanía Lema
  • Eduardo Pásaro
Research Article


Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. The karyotypes from 23 subjects (18 MtFs and 5 FtMs) were also analysed by Affymetrix CytoScan™ high-density (HD) arrays. Our data showed a higher incidence of cytogenetic alterations in Gender Dysphoria (2.65%) than in the general population (0.53%) (p < 0.0001). When G-banding was performed, 11 MtFs (2.48%) and 8 FtMs (2.93%) showed a cytogenetic alteration. Specifically, Klinefelter syndrome frequency was significantly higher (1.13%) (p < 0.0001), however Turner syndrome was not represented in our sample (p < 0.61). At molecular level, HD microarray analysis revealed a 17q21.31 microduplication which encompasses the gene KANSL1 (MIM612452) in 5 out of 18 MtFs and 2 out of 5 FtMs that corresponds to a copy-number variation region in chromosome 17q21.31. In conclusion, we confirm a significantly high frequency of aneuploidy, specifically Klinefelter syndrome and we identified in 7 out of 23 GD individuals the same microduplication of 572 Kb which encompasses the KANSL1 gene.


17q21.31 microduplication Aneuploidy Gender Dysphoria KANSL1 Klinefelter syndrome 



We are grateful to the patients and controls who participated in the study. We also are grateful to all the people who contributed to this work.

Author contributions

Conception and design: RF, EP, AG, EG-G, IE, MCA. Acquisition of data: RF, JC-C, LB, LE. Analysis and interpretation of data: RF, EP, AG, EG-G, IE, MCA, JC-C, LB, LE. Drafting the article: RF, EP, AG, EG-G, IE, MCA, JC-C, LB, LE. Revising it for intellectual content: EP, AG, RF, EG-G, IE.


This work was supported by Grants FPU-MECD 15/02558 (to J.C.C.), PSI2010-15115 (to E.P.), PSI2014-58004-P (to A.G.) and the Xunta de Galicia (grant number ED431B 2016/013).

Compliance with ethical standards

Conflict of interest

The authors Rosa Fernández, Antonio Guillamón, Esther Gómez-Gil, Isabel Esteva, Mari Cruz Almaraz, Joselyn Cortés-Cortés, Beatriz Lamas, Estefanía Lema, and Eduardo Pásaro declare that they have no conflict of interest.

Ethical approval

The study was initiated after obtaining approval from the Ethics Committees of the Universidad de A Coruña (Spain), the Clínic Hospital of Barcelona (Spain), the Carlos Haya Hospital of Málaga (Spain) and the Universidad Nacional de Educación a Distancia (UNED) of Madrid (Spain). We drafted a protocol and obtained written informed consent from each of the participants in the study.


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Copyright information

© The Genetics Society of Korea and Springer Science+Business Media B.V., part of Springer Nature 2018

Authors and Affiliations

  • Rosa Fernández
    • 1
    • 6
    Email author
  • Antonio Guillamón
    • 2
  • Esther Gómez-Gil
    • 3
  • Isabel Esteva
    • 4
  • Mari Cruz Almaraz
    • 4
  • Joselyn Cortés-Cortés
    • 1
  • Beatriz Lamas
    • 1
  • Estefanía Lema
    • 5
  • Eduardo Pásaro
    • 1
  1. 1.Department of PsychologyUniversidade da CoruñaA CoruñaSpain
  2. 2.Department of PsychobiologyUNEDMadridSpain
  3. 3.Unit of Gender IdentityClinic HospitalBarcelonaSpain
  4. 4.Unit of Transsexualism and Gender IdentityCarlos Haya HospitalMalagaSpain
  5. 5.Department of Family, School and SocietyUniversidad Internacional de la RiojaLogroñoSpain
  6. 6.Department of Psychology, Facultad Ciencias de la EducaciónUniversidade da CoruñaA CoruñaSpain

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