Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved

In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last decade, the use of array comparative genomic hybridization (CGH) offered a great contribution to get a diagnosis in complex phenotypes. The chromos...

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Detalles Bibliográficos
Autores principales: Di Nora, Alessandra, Lena, Germana, Giugno, Andrea, Di Mari, Alessia, Smilari, Pierluigi, Minardi, Carmelo, Pavone, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378915/
https://www.ncbi.nlm.nih.gov/pubmed/34430965
http://dx.doi.org/10.1055/s-0041-1729546

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378915/
https://www.ncbi.nlm.nih.gov/pubmed/34430965
http://dx.doi.org/10.1055/s-0041-1729546

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