Unbalanced Y-autosomal translocations without clinical manifestation
https://doi.org/ 10.25557/2073-7998.2018.11.7-10
Abstract
Chromosomal heteromorphism, in the form of increasing of the short arms of acrocentric chromosomes, is quite common in cytogenetic diagnosis. In some cases, these may be increased due to unbalanced translocation involving heterochromatin, most often Yq. This phenomenon can be explained by the association of these chromosomes with the XY complex in early pachytene. Carriers of unbalanced Y-autosomal translocations usually have a normal phenotype and fertility. However, in some reports, it has been shown that carriers t (Y; 15) (q12; p11) may have reproductive problems or children with abnormal phenotype. When using molecular cytogenetic methods, a detailed characterization of heteromorphism of acrocentric chromosomes was given in four cases. FISH analysis allowed us to determine the unbalanced translocation Y;15 in three cases, and Y;14 - in one. Information on the variants of heterochromatin chromosome regions allows to provide appropriate medical-genetic counseling to the family.
About the Authors
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. V. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
E. V. Musatova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. A. Tarlycheva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. Liehr T. Benign & Pathological Chromosomal Imbalances. 1. Oxford: Academic; 2014.
2. Nielsen J, Rasmussen K. Y/autosomal translocations. Clin Genet. 1976; 9:609-17.
3. Metzler-Guillemain C, Mignon C, Depetris D, et al. Bivalent 15 regularly associates with the sex vesicle in normal male meiosis. Chromosome Res. 1999; 7:369-78.
4. Chromosome abnormalities and genetic counseling. Oxford monographs of medical genetics n. 6, Gardner RJM, Sutherland GR, Shaffer LG (eds); Int. Oxford press 2012.
5. Eliez S, Morris MA, Dahoun-Hadorn S, DeLozier-Blanchet CD, et al. Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13. Am J Med Genet. 1997;70:222-228.
6. Rajcan-Separovic E, Robinson WP, Stephenson M. Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13) Am J Med Genet. 2001;99:320-324.
7. Chen Y, Chen G, Lian Y, et al. A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports. Journal of Assisted Reproduction and Genetics. 2007;24(10):483-488.
8. ISCN. In: An International System for Human Cytogenetic Nomenclature. 1. Shaffer LG, McGowan-Jordan J, Schmid M, editors. Basel: S. Karger; 2016
9. Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Molecular Cytogenetics. 2016;9:5.
10. Alitalo T, Tiihonen J, Hakola P, Chapelle A. Molecular characterization of a Y;15 translocation segregating in a family. Hum Genet. 1988;79:29-35.
11. Chen-Shtoyerman R, Josefsberg Ben-Yehoshua S, Nissani R, et al. A prevalent Y;15 translocation in the Ethiopian Beta Israel community in Israel. Cytogenet Genome Res. 2012;136:171-4.
12. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994; 53:108-40.
Review
For citations:
Markova Zh.G., Minzhenkova M.V., Musatova E.V., Tarlycheva A.A., Shilova N.V. Unbalanced Y-autosomal translocations without clinical manifestation. Medical Genetics. 2018;17(11):7-10. (In Russ.) https://doi.org/ 10.25557/2073-7998.2018.11.7-10
Views:
720
Email this article 