지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 465 - 473 (9page)
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초록· 키워드
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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.
목차
등록된 정보가 없습니다.
참고문헌 (56)
참고문헌 신청
American Psychiatric Association / 2000 / Diagnostic and statistical manual of mental disorders, 4th edn. DSM-IV-TR
American Psychiatric Association / 2013 / Diagnostic and statistical manual of mental disorders, 5th edn. DSM-5 / American Psychiatric Publishing, Inc.
Auer MK / 2013 / Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-up / Fertil Steril 100:1103~1110
Ballif BC / 2006 / Detection of lowlevel mosaicism by array CGH in routine diagnostic specimens / Am J Med Genet A 140:2757~2767
Bancroft J / 1982 / The personality and psycho-sexual development of boys with 47 XXY chromosome constitution / J Child Psychol Psychiatry 23:169~180
American Psychiatric Association / 2013 / Diagnostic and statistical manual of mental disorders, 5th edn. DSM-5 / American Psychiatric Publishing, Inc.
Auer MK / 2013 / Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-up / Fertil Steril 100:1103~1110
Ballif BC / 2006 / Detection of lowlevel mosaicism by array CGH in routine diagnostic specimens / Am J Med Genet A 140:2757~2767
Bancroft J / 1982 / The personality and psycho-sexual development of boys with 47 XXY chromosome constitution / J Child Psychol Psychiatry 23:169~180
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