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Familial (1;2) reciprocal translocation: present-day diagnostic tools

https://doi.org/10.1234/XXXX-XXXX-2016-7-33-35

Abstract

The case of familial (1;2) reciprocal translocation is discussed in order to illustrate major principles of genetic counseling and up-to-date diagnostic approaches used for such patients.

About the Authors

Y. O. Kozlova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation


I. V. Kanivets
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation


E. V. Musatova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation


N. V. Shilova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation


References

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2. Gardner RJ, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. Oxford University Press, 2012.

3. Miller DT, Adam MP, Aradhya S et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764, 2010.

4. Melotte C, Debrock S, D’Hooghe T, Fryns JP, Vermeesch JR. Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod 19: 2777-2783, 2004.

5. Золотухина ТВ, Канивец ИВ, Коростелев СА, Шилова НВ и др. Опыт использования комплекса современных методов исследования в конституциональной цитогенетике. Мед Генетика 12(150): 22-28, 2014.


Review

For citations:


Kozlova Y.O., Kanivets I.V., Musatova E.V., Shilova N.V. Familial (1;2) reciprocal translocation: present-day diagnostic tools. Medical Genetics. 2016;15(7):33-35. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-7-33-35

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ISSN 2073-7998 (Print)