Familial Transmission of a Robertsonian Translocation rob(21;22): A Case Report
Article Sidebar
Main Article Content
Abstract
Abstract
Introduction: Robertsonian Translocations (RT) are the most common balanced rearrangements. However, double Robertsonian translocations, in which two balanced RT occur simultaneously in the same carrier, are extremely rare conditions.
Objective: to study the segregation of an RT rob(21;22) in the offspring of a phenotypically normal couple who were found to carry this RT.
Case report: The first daughter of the couple has Down Syndrome and double RT, her karyotype was 45, XX, rob(21;22)2,+21. The couple's karyotypes reveal RT in both parents involving chromosomes 21 and 22. Prenatal diagnosis in the second pregnancy revealed a double RT: 44, XX, rob(21;22) ×2; the second child was phenotypically normal. The family pedigree also included other cases of Down syndrome.
Conclusion: The consanguinity seems to be a risk factor not only for Mendelian disorders but also for chromosomal rearrangement.
Downloads
Article Details
Copyright (c) 2025 Ouertani I, et al.
This work is licensed under a Creative Commons Attribution 4.0 International License.
Licensing and protecting the author rights is the central aim and core of the publishing business. Peertechz dedicates itself in making it easier for people to share and build upon the work of others while maintaining consistency with the rules of copyright. Peertechz licensing terms are formulated to facilitate reuse of the manuscripts published in journals to take maximum advantage of Open Access publication and for the purpose of disseminating knowledge.
We support 'libre' open access, which defines Open Access in true terms as free of charge online access along with usage rights. The usage rights are granted through the use of specific Creative Commons license.
Peertechz accomplice with- [CC BY 4.0]
Explanation
'CC' stands for Creative Commons license. 'BY' symbolizes that users have provided attribution to the creator that the published manuscripts can be used or shared. This license allows for redistribution, commercial and non-commercial, as long as it is passed along unchanged and in whole, with credit to the author.
Please take in notification that Creative Commons user licenses are non-revocable. We recommend authors to check if their funding body requires a specific license.
With this license, the authors are allowed that after publishing with Peertechz, they can share their research by posting a free draft copy of their article to any repository or website.
'CC BY' license observance:
|
License Name |
Permission to read and download |
Permission to display in a repository |
Permission to translate |
Commercial uses of manuscript |
|
CC BY 4.0 |
Yes |
Yes |
Yes |
Yes |
The authors please note that Creative Commons license is focused on making creative works available for discovery and reuse. Creative Commons licenses provide an alternative to standard copyrights, allowing authors to specify ways that their works can be used without having to grant permission for each individual request. Others who want to reserve all of their rights under copyright law should not use CC licenses.
Sullivan BA, Wolff DJ, Schwartz S. Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy. Chromosoma. 1994;103:459–67. Available from: https://doi.org/10.1007/bf00337384
Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975;8(4):223–43. Available from: https://doi.org/10.1111/j.1399-0004.1975.tb01498.x
Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87(1):81–3. Available from: https://pubmed.ncbi.nlm.nih.gov/2090319/
Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, et al. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet. 2009;52(4):161–9. Available from: https://doi.org/10.1016/j.ejmg.2009.03.015
Page SL, Shin JC, Han JY, Choo KH, Shaffer LG. Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet. 1996;5(9):1279–88. Available from: https://doi.org/10.1093/hmg/5.9.1279
Schoemaker MJ, Jones ME, Higgins CD, Wright AF, United Kingdom Clinical Cytogenetics Group, Swerdlow AJ. Mortality and cancer incidence in carriers of balanced Robertsonian translocations: a national cohort study. Am J Epidemiol. 2019;188:500–8. Available from: https://doi.org/10.1093/aje/kwy266
Zhao WW, Wu M, Chen F, Jiang S, Su H, et al. Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China. PLoS One. 2015;10(5):e0122647. Available from: https://doi.org/10.1371/journal.pone.0122647
Martinez-Castro P, Ramos MC, Rey JA, Benitez J, Sanchez Cascos A. Homozygosity for a Robertsonian translocation (13q14q) in three offspring of heterozygous parents. Cytogenet Cell Genet. 1984;38(4):310–2. Available from: https://doi.org/10.1159/000132080
Rockman-Greenberg C, Ray M, Evans JA, Canning N, Hamerton JL. Homozygous Robertsonian translocations in a fetus with 44 chromosomes. Hum Genet. 1982;61(3):181–4. Available from: https://doi.org/10.1007/bf00296437
Dallapiccola B, Ferranti G, Altissimi D, Colloridi F, Paesano R. First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes. Prenat Diagn. 1989;9(8):555–8. Available from: https://doi.org/10.1002/pd.1970090804
Morgan R, Bixenman H, Hecht F. Human chromosome variation with two Robertsonian translocations. Hum Genet. 1985;69:178–80. Available from: https://doi.org/10.1007/bf00293293
Eklund A, Simola KO, Ryynänen M. Translocation t(13;14) in nine generations with a case of translocation homozygosity. Clin Genet. 1988;33:83–6. Available from: https://doi.org/10.1111/j.1399-0004.1988.tb03415.x
Rajangam S, Michaelis RC, Velagaleti GVN, Lincoln S, Hegde S, Lewin S, et al. Down syndrome with biparental inheritance of der(14q21q) and maternally derived trisomy 21: confirmation by fluorescence in situ hybridization and microsatellite polymorphism analysis. Am J Med Genet. 1997;70:43–7. Available from: https://doi.org/10.1002/(sici)1096-8628(19970502)70:1%3C43::aid-ajmg9%3E3.0.co;2-s
Omrani MD, Gargari SS. Uniparental disomy resulting from heterozygous Robertsonian translocation (13q14q) in both parents. J Res Med Sci. 2007;12:100–3. Available from: http://jrms.mui.ac.ir/index.php/jrms/article/view/483
Malekpour N, Kormi SMA, Azadbakht M, Yousefi M, Hasanzadeh-Nazar Abadi M. The survey of double Robertsonian translocation 13q;14q in the pedigree of 44;XX woman: a case report. Int J Mol Cell Med. 2017;6(4):243–8. Available from: https://doi.org/10.22088/bums.6.4.243
Sahraeean S, Jebelli A, Shahbazi Z, Piryaei F. Homozygosity for Robertsonian translocation (14q;15q) in a newborn with a familial history of recurrent abortion and newborns affected by hepatosplenomegaly: a case report. J Reprod Infertil. 2023;24(4):301–5. Available from: https://doi.org/10.18502/jri.v24i4.14158
Abdalla EM, Kholeif SF, Elshaffie RM. Homozygosity for a Robertsonian translocation (13q;14q) in an otherwise healthy 44,XY man with a history of repeated fetal losses. Lab Med. 2013;44:254–7.
Yamazawa K, Ogata T, Ferguson-Smith AC. Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet. 2010;154C(3):329–34. Available from: https://doi.org/10.1002/ajmg.c.30270
Fryns JP, Van Buggenhout G. Structural chromosome rearrangements in couples with recurrent fetal wastage. Eur J Obstet Gynecol Reprod Biol. 1998;81:171–6. Available from: https://doi.org/10.1016/s0301-2115(98)00185-7
Keymolen K, Van Berkel K, Vorsselmans A, Staessen C, Liebaers I. Pregnancy outcome in carriers of Robertsonian translocations. Am J Med Genet A. 2011;155:2381–5. Available from: https://doi.org/10.1002/ajmg.a.33941
Ferlin A, Garolla A, Foresta C. Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities. Cytogenet Genome Res. 2005;111:310–6. Available from: https://doi.org/10.1159/000086905
Sarrate Z, Blanco J, Anton E, Egozcue S, Egozcue J, et al. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling. Asian J Androl. 2005;7:227–36. Available from: https://doi.org/10.1111/j.1745-7262.2005.00061.x
Tempest HG. Meiotic recombination errors: the origin of sperm aneuploidy and clinical recommendations. Syst Biol Reprod Med. 2011;57:93–101. Available from: https://doi.org/10.3109/19396368.2010.504879
Dang T, Xie P, Zhang Z, Hu L, Tang Y, et al. The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers. J Assist Reprod Genet. 2023;40(8):1995–2002. Available from: https://doi.org/10.1007/s10815-023-02853-5
Eaker S, Pyle A, Cobb J, Handel MA. Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice. J Cell Sci. 2001;114:2953–65. Available from: https://doi.org/10.1242/jcs.114.16.2953
Bandyopadhyay R, Heller A, Knox-DuBois C, McCaskill C, Berend SA, et al. Parental origin and timing of de novo Robertsonian translocation formation. Am J Hum Genet. 2002;71(6):1456–62. Available from: https://doi.org/10.1086/344662
Miryounesi M, Diantpour M, Motevaseli E, Ghafouri-Fard S. Homozygosity for a Robertsonian translocation (13q;14q) in an otherwise healthy 44,XX female with a history of recurrent abortion and a normal pregnancy outcome. J Reprod Infertil. 2016;17(3):184–7. Available from: https://pubmed.ncbi.nlm.nih.gov/27478773/
O'Neill ID. Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype. J Hum Genet. 2010;55(9):559–64. Available from: https://doi.org/10.1038/jhg.2010.80
Kopakka N, Dalvi R, Shetty DL, Das BR, Mandava S. Balanced autosomal translocation and double Robertsonian translocation in cases of primary amenorrhea in an Indian population. Int J Gynaecol Obstet. 2012;116(3):253–7. Available from: https://doi.org/10.1016/j.ijgo.2011.09.029
Pierron L, Irrmann A, de Chalus A, Bloch A, Heide S, Rogers E, et al. Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis. J Assist Reprod Genet. 2019;36(5):973–8. Available from: https://doi.org/10.1007/s10815-019-01430-z