2015, Number 4
Pericentric inversion of chromosome 1. A case report
Language: Spanish
References: 10
Page: 285-288
PDF size: 118.14 Kb.
ABSTRACT
Chromosomal abnormalities are more common in infertile couples that in the general population. Among infertile patients, an overall incidence of 2.1 % and 6 % has been observed in women and men respectively. The highest incidence is found in azoospermic men, reaching up to 16 %. Pericentric inversions are among the most common balanced chromosome rearrangements, with a frequency of 1-2 %. The case of a patient treated at the Territorial Center for Assisted Reproduction in Cienfuegos due to a two-year history of infertility is presented. A cytogenetic study was conducted and a pericentric inversion of chromosome 1 46, XY inv (1) (p13 q32) was diagnosed. The importance of performing a cytogenetic study in men with severe seminal alterations is undeniable since diagnosis of this condition can lead to identification of patients at risk of transmitting it to their offspring.REFERENCES
Pimentel HI, Martín N, García A, Gómez Z, Angulo E, Iglesias HE. Trastornos de la fertilidad y aberraciones cromosómicas asociadas. AMC [revista en Internet]. 2011 [citado 17 Nov 2014];15(5):[aprox. 12p]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext& pid=S1025-02552011000500003&lng=es
Molina O, Méndez LA, Barrios A, Viñales MI. Inversión inusual del cromosoma 21 en una paciente abortadora habitual. Rev Cubana Obstet Ginecol [revista en Internet]. 2014 [citado 26 Mar 2015];40(3):[aprox. 7p]. Disponible en: http://scielo.sld.cu/scielo.php?pid=S0138-600X20 14000300008&script=sci_arttext
González N, Méndez LA, del Monte E, Soriano M, Barrios A, Morales E, et al. Estimación de las frecuencias de las inversiones cromosómicas y la posible repercusión de la inversión pericéntrica del 9 en las fallas reproductivas [Internet]. La Habana: Congreso Internacional de Genética Comunitaria; 2014 [citado 23 Feb 2015]. Disponible en: http://geneticacomunitaria2014.sld.cu/index.php/ geneticacomunitaria/2014/paper/view/451