-transparent.png){kind=logo}
Clinical experience with balanced reciprocal translocations: In order to evaluate past experience with respect to the occurrence of balanced reciprocal translocations (BRT) in patients with malformation syndromes and/or mental retardation (MS/MR) and in couples with reproductive failure, 4,335 karyotypes from the Genetics Unit of the Universidad del Zulia from January 1971 to December 1994 were reviewed, resulting in the identification of 15 cases of BRT (0.34%). All BRT were classic (CT) according to the number of breakpoints. In 66.6% of the cases, the indication for chromosome analysis was a MS/MR; 20% reproductive failure and, in 13.3% the BRT was a fortuitous finding. BRT were of familial origin in 6/15 (40%), 3/15 (20%) were de novo and the other 6/15 (40%) were of unknown origin. It was concluded that BRT can affect the phenotype, particularly when the request for the karyotype is motivated by MS/MR, and that genetic counseling in individuals at risk to be carrier is indicated.
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
December 2010,
Taiwanese journal of obstetrics & gynecology,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
October 1998,
American journal of medical genetics,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
September 2007,
European journal of obstetrics, gynecology, and reproductive biology,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
January 1985,
Clinical genetics,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
December 2020,
Genetics in medicine : official journal of the American College of Medical Genetics,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
August 2020,
BMC genomics,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
January 2012,
Cytogenetic and genome research,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
March 2020,
Journal of assisted reproduction and genetics,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
January 1969,
British medical bulletin,
M Prieto-Carrasquero, and
A Rojas-Atencio, and
S Gonzalez, and
L Pineda-Del Villar, and
M Soto, and
M Quintero, and
L E Miranda, and
J Cañizales
June 1989,
Clinical genetics,
