TY  - JOUR
AU  - Méndez-Rosado, Luis A.
AU  - Sotillo-Bent, Luis A.
AU  - Sotillo-Lindo, José
AU  - Barrios-Martínez, Anduriña
AU  - Hechavarria-Estenoz, Dulce
AU  - Mayeta, Margarita
AU  - Hernández-Gil, Jose
AU  - Pimentel-Benitez, Hector
AU  - de la Torre, Maria Elena
AU  - Moreno, Hibo
AU  - Díaz-Véliz, Pedro
AU  - Vaglio, Alicia
AU  - Quadrelli, Roberto
AU  - Sánchez-Peñarate, Diana
AU  - Cerrillo-Hinojosa, Mabel
AU  - Carbonell-de la Torre, Pedro
AU  - Pupo-Balboa, Judith
AU  - Soriano-Torres, Michel
AU  - del Sol, Marilyn
AU  - Castelvi, Arlay
AU  - Morales, Enny
AU  - García, Damarys
AU  - Serrano-Hidalgo, Rocío
AU  - Obando, Catalina
AU  - Pardo, Liz
AU  - del Toro, Laritza
AU  - Martinez, Miladys
AU  - Uria-Gómez, Conrado
AU  - Ontiveros, Maria G Arteaga
AU  - Castro, Mayte
AU  - Rabelo, Odalys
AU  - Miñoso, Sahily
AU  - Licourt, Deysi
AU  - Blanco, Irenia
AU  - Lardoeyt-Ferrer, Roberto
AU  - Gonzalez, Nereida
AU  - Quiñones-Masa, Olga
PY  - 2025
DA  - 2025/06/10
TI  - Reciprocal Translocations in Prenatal Diagnosis: Latin America Data
JO  - OBM Genetics
SP  - 296
VL  - 09
IS  - 02
AB  - Generally, in reciprocal translocations there are no gains or losses of genetic material. From the clinical point of view, its primary importance lies in the fact that it can generate errors due to incorrect chromosome segregation during meiosis in carriers. On the other hand, other mutations are less frequent in the genome, specifically in the DNA breakpoints implied in these translocations. In Latin America there are no large-scale reports about this topic. To contribute to the study of reciprocal translocations detected during prenatal diagnosis in Latin American countries through different aspects: frequency of occurrence, possible association with phenotypic alterations, most frequently involved chromosomal breakpoints, and other issues. Methods: This was a retrospective observational study based on the analysis of 143,093 prenatal test data conducted from 1984 to 2021 in Cuba, Uruguay, Costa Rica, Mexico, Panama, and Colombia (19 laboratories) and two publications. Cytogenetic laboratories and publications provided information that included: total number of cases analyzed, number of reciprocal translocations detected, detailed descriptions of the karyotypes, reasons for referral to the laboratory, sonographic findings, and follow-up studies in translocation carriers. One hundred forty-three thousand ninety-three data points from prenatal diagnosis were collected. 243 translocations were reported, 210 balanced and 33 unbalanced. The most frequently referred reasons were advanced maternal age with 56%, a parent carrying a balanced translocation 23%, and sonographic findings 10%. 76 reciprocal translocations were inherited, 46 were de novo cases, and 121 were undetermined. 10% of the translocations had some type of fetal ultrasound abnormality and/or subsequent abnormality during the follow-up of the patients over time. Seven recurrent breakpoints were found. The breakpoints with significant difference from international studies were 1p13 and 9p24. The frequency of reciprocal translocations is consistent with international studies. Follow-up studies and prenatal ultrasound showed 10% of phenotypic alterations. Recurring breakpoints specific to the Latin American region were detected.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2502296
DO  - 10.21926/obm.genet.2502296
ID  - Méndez-Rosado2025
ER  -