New Discovery of a Rare Robertsonian Translocation (15;22) - A Case report from India
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Abstract
The rob(15;22) is one of the rarest translocations which accounts for only 0.6% of the entire Robertsonian translocations reported in humans. A case of rob(15;22) in association with trisomy 21 still has not been reported. In the present study, a case of a 3-year 6-month-old male child with rob(15;22) with trisomy 21 is focused. The phenotype comprises generalized hypotonia, delayed developmental milestones, simian crease, dysmorphic facies, etc. Chromosome analysis with peripheral blood was executed and the karyotype was interpreted as 46,XY,der(15;22)(q10;q10)+21. To analyse whether the chromosomal translocation was de-novo or inherited, the chromosome analysis with the peripheral blood of his parents was performed. The karyotype of the father was interpreted as 46,XY, and of the mother was 45,XX,der(15;22). It was concluded that the rob(15;22) was inherited from his mother, although trisomy 21 was a de novo incidence. Hence, this case study can be proven useful in the understanding of rob(15;22) in solo and rob(15;22) in association with trisomy 21.
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Ananthapur V, Avvari S, Tella S, Nallari P, Akka J. A Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case report. J Reprod Infertil. 2010 Oct;11(3):197-200. PMID: 23926490; PMCID: PMC3719299.
Bernicot I, Schneider A, Mace A, Hamamah S, Hedon B, Pellestor F, Anahory T. Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD. Eur J Med Genet. 2012 Apr;55(4):245-51. doi: 10.1016/j.ejmg.2012.02.003. Epub 2012 Feb 22. PMID: 22406402.
Maloy S, Hughes K. Robertsonian Translocations. Brenner’s Encyclopedia of Genetics, 2nd edition. February, 2013; 6: ISBN: 9780123749840.
Almesned RK, Alsuhaibani SS, Alali HJ, Qubbaj WA, Al Hathal NK. Male Infertility in Robertsonian Translocation: A Case report. Am J Case Rep. 2020 May 15;21:e921616. doi: 10.12659/AJCR.921616. PMID: 32413022; PMCID: PMC7252845.
Keymolen K, Van Berkel K, Vorsselmans A, Staessen C, Liebaers I. Pregnancy outcome in carriers of Robertsonian translocations. Am J Med Genet A. 2011 Oct;155A(10):2381-5. doi: 10.1002/ajmg.a.33941. Epub 2011 Sep 9. PMID: 21910218.
Cherezov RO, Vorontsova JE, Simonova OB. TBP-Related Factor 2 as a Trigger for Robertsonian Translocations and Speciation. Int J Mol Sci. 2020 Nov 23;21(22):8871. doi: 10.3390/ijms21228871. PMID: 33238614; PMCID: PMC7700478.
Song J, Li X, Sun L, Xu S, Liu N, Yao Y, Liu Z, Wang W, Rong H, Wang B. A family with Robertsonian translocation: a potential mechanism of speciation in humans. Mol Cytogenet. 2016 Jun 18;9:48. doi: 10.1186/s13039-016-0255-7. PMID: 27330563; PMCID: PMC4912789.
Gardner RJM, Sutherland GR, Shaffer LG. Robertsonian Translocations. In: Chromosomal Abnormalities and Genetic Counseling. Chapter 7. 4th ed, Oxford University Press. 2012;140-143.
Becher R, Wendt F, Kühn D. Constitutional Robertsonian T(15;22) in Ph-positive CML. Hum Genet. 1987 Aug;76(4):399. doi: 10.1007/BF00272453. PMID: 3475248.
Hays T, Morse HG, Robinson A. 9;22;15 complex translocation in Ph1 chromosome positive CML revealed by Giemsa-11 procedure in apparent lymphoid cells of blastic crisis. Cancer Genet Cytogenet. 1981 Dec;4(4):283-92. doi: 10.1016/0165-4608(81)90024-8. PMID: 6949632.
Fryns JP. The cardio-facio-cutaneous (CFC) syndrome and Robertsonian 15/22 translocation. Ann Genet. 1992;35(3):186-8. PMID: 1466572.
Marino TC, Martinez PAV, Gil JH, Velazquez MM, Pena ES. 44, X, der(15; 22) (q10;q10), a unusual karyotype-A case report. Rev Cubana Genet Comunit. 2010;4:59-61.
Cho CH, Shin JH, Nam MH, Lim CS, Lee CK, Cho Y, Kim YK, Yoon SY. A Case report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review. Ann Clin Lab Sci. 2016 Winter;46(1):102-5. PMID: 26927352.
Kalsner L, Chamberlain SJ. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes. Pediatr Clin North Am. 2015 Jun;62(3):587-606. doi: 10.1016/j.pcl.2015.03.004. Epub 2015 Apr 22. PMID: 26022164; PMCID: PMC4449422.
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. PMID: 21200182.
Sloand EM, Yong AS, Ramkissoon S, Solomou E, Bruno TC, Kim S, Fuhrer M, Kajigaya S, Barrett AJ, Young NS. Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor. Proc Natl Acad Sci U S A. 2006 Sep 26;103(39):14483-8. doi: 10.1073/pnas.0605245103. Epub 2006 Sep 15. PMID: 16980411; PMCID: PMC1599987.
Bernicot I, Schneider A, Mace A, Hamamah S, Hedon B, Pellestor F, Anahory T. Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD. Eur J Med Genet. 2012 Apr;55(4):245-51. doi: 10.1016/j.ejmg.2012.02.003. Epub 2012 Feb 22. PMID: 22406402.
McStay B. The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules. Annu Rev Genomics Hum Genet. 2023 Aug 25;24:63-83. doi: 10.1146/annurev-genom-101122-081642. Epub 2023 Feb 28. PMID: 36854315.
ISCN 2020: An International System for Human Cytogenomic Nomenclature. Edited by: McGowan-Jordan J; Hastings RJ; Moore S. Published by: Karger. 2020; ISBN print: 978-3-318-06706-4