Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)-Reference-Cited by-同舟云学术

Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

Published:2018-12-01 Issue:2 Volume:21 Page:69-72
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:en
Short-container-title:

Author:

Atli Eİ¹,Gurkan H¹,Atli E¹,Tozkir H¹,Varol GF²,İnan C²

Affiliation:

1. Department of Medical Genetics, Faculty of Medicine, Trakya University , Edirne , Turkey

2. Department of Gynecology and Obstetrics, Faculty of Medicine, Trakya University , Edirne , Turkey

Abstract

Abstract The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.sciendo.com/pdf/10.2478/bjmg-2018-0020

Reference7 articles.

1. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res. 1960; 20(3): 613-616.

2. Peter PA. Prenatal diagnosis of chromosomal abnormalities through chorionic villus sampling and amniocentesis. In: Milunsky A, Milunsky JM, Editors. Benn Genetic Disorders and the Fetus Diagnosis, Prevention, and Treatment, 7th ed. Hoboken, NJ, USA: Wiley Blackwell; 2015: 178-266.

3. Mangelschots K, Van Roy B, Speleman F, Van Roy N, Gheuens J, Beuten J, et al. Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: Characterization by fluorescence in situ hybridization and DNA analysis. Hum Genet. 1992; 89(4): 407-413.

4. Rupa D, Neeraja K, Deepak C, Swarna M. A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15)(p11.2; q22.1). J Hum Reprod Sci. 2016; 9(2): 128-130.

5. Frikha R, Turki F, Daoud S, Kaabi O, Louati R, Trabelsi O, et al. A rare familial non Robertsonian translocation involving chromosomes 15 and 21 and failure of reproduction: Is there a correlation? (2809S). Presented at the 64th Annual Meeting of the American Society of Human Genetics, San Diego, CA, USA, October 19 2014. Am Soc Hum Genet. 2014; 95(3): 214-221.