Isodicentric
chromosomes are a frequently appearing abnormality in the human Y chromosome.
Making predictions regarding the phenotypic outcomes of a variety of
duplications/deletions in the dicentric Y chromosome generally depends on the
breakpoint location and also the level of mosaicism (45, X cell lines); in
certain instances, these may not be detected and result in variations running
between male, abnormal female, or ambiguity in individual genitalia. A referral
was received from a urology clinic concerning two patients, one aged 34 and one
aged 35, with a request to investigate reasons for infertility: G-banded
karyotyping and fluorescence in situ hybridization (FISH) revealed the presence
of an isodicentric Y chromosome.
References
[1]
Lehmann, K., Kovac, J., Xu, J. and Fischer, M. (2012) Isodicentric Yq Mosaicism Presenting as Infertility and Maturation Arrest without Altered SRY and AZF Regions. Journal of Assisted Reproduction and Genetics, 29, 939-942.
https://doi.org/10.1007/s10815-012-9822-y
[2]
Colao, E., Vismara, M.F.M., Bombardiere, F., Fabiani, F. and Grillone, T. (2015) Clinical and Molecular Evaluation of a Case of Male Infertility and Azoospermia. Journal of Case Reports and Studies, 3, 102.?
[3]
Bergeron, M., Brochu, P., Lemyre, E. and Lemieux, N. (2011) Correlation of Intercentromeric Distance, Mosaicism, and Sexual Phenotype: Molecular Localization of Breakpoints in Isodicentric Y Chromosomes. American Journal of Medical Genetics Part A, 155, 2705-2712. https://doi.org/10.1002/ajmg.a.34260
[4]
Lange, J., Skaletsky, H., van Daalen, S., Embry, S., Korver, C., Brown, L., Oates, R., Silber, S., Repping, S. and Page, D. (2009) Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination That Maintains Palindromes. Cell, 138, 855-869. https://doi.org/10.1016/j.cell.2009.07.042
[5]
Becker, R. and Akhavan, A. (2016) Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient with Mosaic 45,X/46, X,idic(Y)q11.222 Karyotype. Urology Case Reports, 5, 13-16. https://doi.org/10.1016/j.eucr.2015.12.003
[6]
Jiang, Y., Wang, R., Li, L., Xue, L., Deng, S. and Liu, R. (2017) Molecular-Cytogenetic Study of de Novo Mosaic Karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an Azoospermic Male: Case Report and Literature Review. Molecular Medicine Reports, 16, 3433-3438. https://doi.org/10.3892/mmr.2017.6981
[7]
Trombetta, B. and Cruciani, F. (2017) Y Chromosome Palindromes and Gene Conversion. Human Genetics, 136, 605-619. https://doi.org/10.1007/s00439-017-1777-8
[8]
Lee, J., Park, J., Kim, D., Lee, H., Choi, S. and Cho, Y. (2019) Detailed Analysis of Isodicentric Y in a Case with Azoospermia and 45,X/46,X,Idic(Y) Mosaicism.
http://www.annclinlabsci.org/content/45/2/206.long
[9]
Silber, S. and Disteche, C. (2019) Y Chromosome Infertility.
https://www.ncbi.nlm.nih.gov/books/NBK1339/
[10]
MMG 233 2014 Genetics & Genomics Wiki. (2019) The Loss of the Y Chromosome.
https://mmg-233-2014-genetics-genomics.fandom.com/wiki/The_Loss_of_the_Y_Chromosome
[11]
Bansal, S., Jaiswal, D., Gupta, N., Singh, K., Dada, R., Sankhwar, S., Gupta, G. and Rajender, S. (2016) Gr/gr Deletions on Y-Chromosome Correlate with Male Infertility: An Original Study, Meta-Analyses and Trial Sequential Analyses. Scientific Reports, 6, Article No. 19798. https://doi.org/10.1038/srep19798
