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High risk for carriers of de novo balanced structural chromosomal aberrations in prenatal diagnosis: Latin America data
Author(s) -
MéndezRosado Luis A.,
LardoeytFerrer Roberto
Publication year - 2020
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5600
Subject(s) - chromosomal translocation , reciprocal , phenotype , genetics , prenatal diagnosis , biology , fetus , pregnancy , gene , linguistics , philosophy
What's already known about this topic? Warburton's classic work, on the carriers of de novo balanced structural chromosomal aberrations, reported risk values of an affected phenotype of 6.7% (for reciprocal translocations and inversions). What does this study add? Present study is the most extensive on this topic in Latin America. It reports risk values of an affected phenotype (for reciprocal translocations and inversions) that are twice what Warburton reported. It highlights the importance of long‐term follow‐up for patients with these rearrangements.