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De novo 3q13.13q21.2 interstitial deletion and paternal 12p13.3 microdeletion in a fetus with dysplasia of the corpus callosum and ventriculomegaly: A case report

Chromosome 3q syndrome is a well-known genetic condition caused by interstitial deletion in the long arm of chromosome 3. The phenotype of this syndrome is variable and the great variability in the extent of these deletions leads to a wide spectrum of clinical manifestations. Terminal 12p deletion r...

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Detalles Bibliográficos
Autores principales: Libotte, Francesco, Fabiani, Marco, Margiotti, Katia, Carpineto, Lorena Sonia, Monaco, Francesca, Raffio, Raffaella, Mesoraca, Alvaro, Giorlandino, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893219/
https://www.ncbi.nlm.nih.gov/pubmed/36761008
http://dx.doi.org/10.3892/etm.2023.11799