A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17) translocation of maternal origin. Clinical features...

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Detalles Bibliográficos
Autores principales: Markova, Zhanna G., Minzhenkova, Marina E., Bessonova, Lyudmila A., Shilova, Nadezda V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408977/
https://www.ncbi.nlm.nih.gov/pubmed/34465353
http://dx.doi.org/10.1186/s13039-021-00562-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408977/
https://www.ncbi.nlm.nih.gov/pubmed/34465353
http://dx.doi.org/10.1186/s13039-021-00562-1

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