Rob(13; 15) (q10; q10) translocation: comments on a case
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Keywords

habitual abortion; genetic translocation; karyotype.

How to Cite

Rob(13; 15) (q10; q10) translocation: comments on a case. (2018). Universitas Medica, 59(2). https://doi.org/10.11144/Javeriana.umed59-2.tran

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
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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 Medicine. 2013;44(3):254-7.

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.

Online Mendelian Inheritance in Man-OMIM [Internet]. 2016 [cited 2017 May]. Available from: http://www.ncbi.nlm.nih.gov/Omim/.

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

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.

Solari A. Fundamentos y aplicaciones en medicina: genética humana. 3a ed. Bogotá: Editorial Médica Panamericana; 2008.

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.

Cruz M, Bosh J. Atlas de síndromes pediátricos. Barcelona: ESPAXS; 2008.

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.

Lyons K. SMITH Patrones reconocibles de malformaciones humanas. 6a ed. Barcelona: Elsevier Saunders; 2008.

Strachan T, Read A. Genética humana. 3ª ed. New York: McGraw-Hill Interamericana; 2011.

Ecuador, Ministerio de Salud Pública. Diagnóstico y tratamiento del aborto espontáneo, incompleto diferido y recurrente: guía de práctica clínica. Quito: s. e.; 2013.

Lantigua A. Introducción a la genética médica. 2a ed. La Habana: Ciencias Médicas; 2011.

Luque J, Herráez A. Biología molecular e ingeniería genética: conceptos, técnicas y aplicaciones en ciencias de la salud. La Habana: Ciencias Médicas; 2001.

Turnpenny P, Ellard S. Emery´s elements of medical genetics. 13a ed. Edimburgo: Elsevier Limited; 2007.

Paz-Y-Mino C, López-Cortés A. Genética molecular y citogenética humana: fundamentos, aplicaciones e investigaciones en el Ecuador. Quito: Yachay; 2014.

Nussbaum R, Mclnnes R, Willard H. Thompson-Thompson Genética médica. 7a ed. Barcelona: Elsevier Masson; 2009.

Yip MY. Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing. Transl Pediatr. 2014;3(2):98-107.

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.

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.

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.

Kochhar PK, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J Obstet Gynaecol Res. 2013;39(1):113-20.

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