medigraphic.com
SPANISH

Multimed

ISSN 1028-4818 (Electronic)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2013, Number 4

<< Back Next >>

Mul Med 2013; 17 (4)

Chromosomal aberration balanced. A propos of a case

Espinosa ÁDC, Guerrero JD, Fernández CO
Full text How to cite this article

Language: Spanish
References: 5
Page: 1-8
PDF size: 86.11 Kb.


Key words:

cromosome aberrations, translocation genetic, amniocenstesis.

ABSTRACT

Introduction: the experience of the fetal cytogenetic diagnostic has evidenced that the amniocenthesis to detect chromosomal anomalies is a safe and reliable method, from which there have been determined diverse structural chromosomal aberrations, one of the most frequent were the robertsonian translocations.
Objective: to determine the genetic origin of the translocation from a case study using cytogenetic techniques.
Methods: the study was carried out through a sample of amniotic liquid of a patient remitted for advanced maternal age (≥37ańos).
Results: as a main result it was detected a robertsonian translocation 45, XX -13 - 14, t (13; 14) what served us like a starting point to perform the chromosomal study of the progenitors.
Conclusions: it was determined that the mother is the bearer of this structural chromosomal aberration, unlike the father and the elder daughter.


REFERENCES

  1. Castro Volio I, Sander Mangel K, Vargas Prado M , Sánchez Chávez L, Escalante López G. Diagnóstico prenatal citogenético mediante amniocentesis durante los trimestres II y III de gestación en Costa Rica. Rev. biol. Trop 2001; 49 (3-4).

  2. Wikipedia. La enciclopedia libre. Genética [Internet]. [citado 15 Feb 2013]. Disponible en: http://es.wikipedia.org/wiki/Genetica .

  3. Diagnóstico Genético Preimplantacional para Translocaciones. Reprogenetics Latinoamericana 2010 [Internet]. [citado 22 Feb 2013]. Disponible en: http://www.reprogenetics.com.pe/Web%20ReproLat%20Lima_archivos/Page83 0.htm .

  4. Herrán Brito MD. Asesoramiento genético preconcepcional.[Internet]. [citado 22 FEb 2013]. Disponible en:http://dxprenatal.sld.cu/blog/2005/06/28/ases oramiento-genetico-preconcepcional-en-portadores-de-translocacionesbalanceadas- 1421/ Multimed. 2013; 17(4) 8

  5. Rojas BI. Principios de Asesoramiento Genético. Conferencias CNGM. La Habana: CNGM; 2001.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Mul Med. 2013;17