2013, Number 4
Chromosomal aberration balanced. A propos of a case
Espinosa ÁDC, Guerrero JD, Fernández CO
Language: Spanish
References: 5
Page: 1-8
PDF size: 86.11 Kb.
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