Rob(13; 15) (q10; q10) translocation: comments on a case
Published
Apr 12, 2018
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Abstract
Introduction: Robertsonian translocation is defined as the fusion of
two non-homologous acrocentric chromosomes, with a frequency of one
case per 1000 newborns.
Case report: A 31-year-old female patient
with the following gynecological and obstetrical history: gestations: 7,
abortions 6, births 0, cesareans 1, children alive 1, children dead 0.
Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second
gestation 11 years ago to the seventh gestation occurred this year, have
ended in spontaneous abortions before the first 12 weeks of gestation.
With a cytogenetic study that reports Robertsonian translocation, 45,
XX, t (13/15).
Conclusion: The carrier of a Robertsonian translocation
between chromosomes 13;15, an event that leads to early pregnancy loss
or to the birth of a neonate with multiple defects
two non-homologous acrocentric chromosomes, with a frequency of one
case per 1000 newborns.
Case report: A 31-year-old female patient
with the following gynecological and obstetrical history: gestations: 7,
abortions 6, births 0, cesareans 1, children alive 1, children dead 0.
Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second
gestation 11 years ago to the seventh gestation occurred this year, have
ended in spontaneous abortions before the first 12 weeks of gestation.
With a cytogenetic study that reports Robertsonian translocation, 45,
XX, t (13/15).
Conclusion: The carrier of a Robertsonian translocation
between chromosomes 13;15, an event that leads to early pregnancy loss
or to the birth of a neonate with multiple defects
Keywords
habitual abortion; genetic translocation; karyotype.aborto habitual, translocación genética, cariotipo
References
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2. Wang B, Xia Y, Song J, Wang W, Tang Y. Case report: Potential speciation in humans involving Robertsonian translocations. Biomed Res. 2013;24(1):171-4.
3. Online Mendelian Inheritance in Man-OMIM [Internet]. 2016 [citado 2017 may]. Disponible en: http://www.ncbi.nlm.nih.gov/Omim/.
4. Song J, Li Xi, Sun Lei, Xu S, Liu N, Yao Y, et al. A family with Robertsonian translocation: A potential mechanism of speciation in humans. BioMed Central. 2016;1(2):1-7
5. Miryounesi M, Diantpour M, Motevaseli E, Ghafouri-Fard S. Homozygosity for a Robertsonian translocation(13q;14q) in a phenotypically normal 44, xx female with a history of recurrent abortion and a normal pregnancy outcome. J Reprod Infertil. 2016;17(3):184-7.
6. Solari A. Fundamentos y aplicaciones en medicina: genética humana. 3a ed. Bogotá: Editorial Médica Panamericana; 2008.
7. Slovak M, Theisen A, Shaffer LG. Human chromosome nomenclature: An overview and definition of terms. En: Gersen S, Keagle M. The principles of clinical cytogenetic. 3a rev ed. New York: Springer Science; 2013. p. 34-6.
8. Cruz M, Bosh J. Atlas de síndromes pediátricos. Barcelona: ESPAXS; 2008.
9. Bacolla A, Wells R. Non-B DNA and chromosomal rearrangements. En: Lupski J, Stankiewicz P. The genomic basis of disease. New Jersey: ANSI; 2006. p. 93-4.
10. Lyons K. SMITH Patrones reconocibles de malformaciones humanas. 6a ed. Barcelona: Elsevier Saunders; 2008.
11. Strachan T, Read A. Genética humana. 3ª ed. New York: McGraw-Hill Interamericana; 2011.
12. Ecuador, Ministerio de Salud Pública. Diagnóstico y tratamiento del aborto espontáneo, incompleto diferido y recurrente: guía de práctica clínica. Quito: s. e.; 2013.
13. Lantigua A. Introducción a la genética médica. 2a ed. La Habana: Ciencias Médicas; 2011.
14. Luque J, Herráez A. Biología molecular e ingeniería genética: conceptos, técnicas y aplicaciones en ciencias de la salud. La Habana: Ciencias Médicas; 2001.
15. Turnpenny P, Ellard S. Emery´s elements of medical genetics. 13a ed. Edimburgo: Elsevier Limited; 2007.
16. Paz-Y-Mino C, López-Cortés A. Genética molecular y citogenética humana: fundamentos, aplicaciones e investigaciones en el Ecuador. Quito: Yachay; 2014.
17. Nussbaum R, Mclnnes R, Willard H. Thompson-Thompson Genética médica. 7a ed. Barcelona: Elsevier Masson; 2009.
18. Yip MY. Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing. Transl Pediatr. 2014;3(2):98-107.
19. Hasanzadeh-Nazar M, Baghbani F, Namazi I, Mirzaee S. Robertsonian translocation between chromosomes (nº 21/14) in relation to the history of spontaneous abortion in a family. J Reprod Med. 2014;12(8):581-5.
20. Zhao W-W, Menghua W, Chen F, Jiang S, Su H, Liang Jianfen, et al. Robertsonian traslocations: an overview of 872 Robertsonian translocation identified in a Diagnostic laboratory in China. PlosOne. 2016;10(5):872-87.
21. Xu SQ, Tang DL, Fang K, Xia YZ, Song JP, Wang WP, et al. Analysis of meiotic segregation patterns and interchromosomal effects in sperm from a Robertsonian translocation family. Biomed Res. 2014;25(2):233-9.
22. Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res. 2013;39(1):113-20.
2. Wang B, Xia Y, Song J, Wang W, Tang Y. Case report: Potential speciation in humans involving Robertsonian translocations. Biomed Res. 2013;24(1):171-4.
3. Online Mendelian Inheritance in Man-OMIM [Internet]. 2016 [citado 2017 may]. Disponible en: http://www.ncbi.nlm.nih.gov/Omim/.
4. Song J, Li Xi, Sun Lei, Xu S, Liu N, Yao Y, et al. A family with Robertsonian translocation: A potential mechanism of speciation in humans. BioMed Central. 2016;1(2):1-7
5. Miryounesi M, Diantpour M, Motevaseli E, Ghafouri-Fard S. Homozygosity for a Robertsonian translocation(13q;14q) in a phenotypically normal 44, xx female with a history of recurrent abortion and a normal pregnancy outcome. J Reprod Infertil. 2016;17(3):184-7.
6. Solari A. Fundamentos y aplicaciones en medicina: genética humana. 3a ed. Bogotá: Editorial Médica Panamericana; 2008.
7. Slovak M, Theisen A, Shaffer LG. Human chromosome nomenclature: An overview and definition of terms. En: Gersen S, Keagle M. The principles of clinical cytogenetic. 3a rev ed. New York: Springer Science; 2013. p. 34-6.
8. Cruz M, Bosh J. Atlas de síndromes pediátricos. Barcelona: ESPAXS; 2008.
9. Bacolla A, Wells R. Non-B DNA and chromosomal rearrangements. En: Lupski J, Stankiewicz P. The genomic basis of disease. New Jersey: ANSI; 2006. p. 93-4.
10. Lyons K. SMITH Patrones reconocibles de malformaciones humanas. 6a ed. Barcelona: Elsevier Saunders; 2008.
11. Strachan T, Read A. Genética humana. 3ª ed. New York: McGraw-Hill Interamericana; 2011.
12. Ecuador, Ministerio de Salud Pública. Diagnóstico y tratamiento del aborto espontáneo, incompleto diferido y recurrente: guía de práctica clínica. Quito: s. e.; 2013.
13. Lantigua A. Introducción a la genética médica. 2a ed. La Habana: Ciencias Médicas; 2011.
14. Luque J, Herráez A. Biología molecular e ingeniería genética: conceptos, técnicas y aplicaciones en ciencias de la salud. La Habana: Ciencias Médicas; 2001.
15. Turnpenny P, Ellard S. Emery´s elements of medical genetics. 13a ed. Edimburgo: Elsevier Limited; 2007.
16. Paz-Y-Mino C, López-Cortés A. Genética molecular y citogenética humana: fundamentos, aplicaciones e investigaciones en el Ecuador. Quito: Yachay; 2014.
17. Nussbaum R, Mclnnes R, Willard H. Thompson-Thompson Genética médica. 7a ed. Barcelona: Elsevier Masson; 2009.
18. Yip MY. Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing. Transl Pediatr. 2014;3(2):98-107.
19. Hasanzadeh-Nazar M, Baghbani F, Namazi I, Mirzaee S. Robertsonian translocation between chromosomes (nº 21/14) in relation to the history of spontaneous abortion in a family. J Reprod Med. 2014;12(8):581-5.
20. Zhao W-W, Menghua W, Chen F, Jiang S, Su H, Liang Jianfen, et al. Robertsonian traslocations: an overview of 872 Robertsonian translocation identified in a Diagnostic laboratory in China. PlosOne. 2016;10(5):872-87.
21. Xu SQ, Tang DL, Fang K, Xia YZ, Song JP, Wang WP, et al. Analysis of meiotic segregation patterns and interchromosomal effects in sperm from a Robertsonian translocation family. Biomed Res. 2014;25(2):233-9.
22. Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res. 2013;39(1):113-20.
How to Cite
Guapi Nauñay, V. H., De La Cruz Jiménez, G. J., & Mera Bastidas, S. P. (2018). Rob(13; 15) (q10; q10) translocation: comments on a case. Universitas Medica, 59(2). https://doi.org/10.11144/Javeriana.umed59-2.tran
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