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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding

This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. This testing revealed a diagnosis of an unbalanced 7;9 translocation resulting in monosomy for 7q34-qter and...

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Detalles Bibliográficos
Autores principales: Fischer, Julie, Rohena, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130017/
https://www.ncbi.nlm.nih.gov/pubmed/35620252
http://dx.doi.org/10.1155/2022/7510079