High risk for carriers of de novo balanced structural chromosomal aberrations in prenatal diagnosis: Latin America data

High risk for carriers of de novo balanced structural chromosomal aberrations in prenatal diagnosis: Latin America data

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...

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Bibliographic Details
Published in:Prenatal diagnosis Vol. 40; no. 2; pp. 274 - 275
Main Authors: Méndez‐Rosado, Luis A., Lardoeyt‐Ferrer, Roberto
Format: Journal Article
Language:English
Published: England 01-01-2020
Subjects:
Adolescent
Adult
Child
Child, Preschool
Chromosome Disorders - genetics
Chromosome Disorders - physiopathology
Chromosome Inversion
Follow-Up Studies
Humans
Latin America
Live Birth
Phenotype
Prenatal Diagnosis
Translocation, Genetic
Young Adult
Latin America
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Summary: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.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.5600