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Variaciones en el número de copias de 7q11.23 diagnosticadas prenatalmente: una serie de casos retrospectivos

Jiong Yan1, Ziyang Liu2, Song Yi3

  • 1Department of Administration Office, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Molecular genetics & genomic medicine
|January 6, 2026
PubMed
Resumen

El diagnóstico prenatal del síndrome de Williams-Beuren (WBS) implica variaciones en el número de copias (CNV) que muestran diversas anomalías ecográficas. Las pruebas genéticas y el análisis de la herencia son cruciales para el diagnóstico preciso del WBS y el asesoramiento.

Palabras clave:
microdeleción 7q11.23análisis de microarrays de SNPsíndrome de Williams-Beurenherencia genéticaasesoramiento prenatalecografía prenatal

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