Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

We report on a patient with a 1.2 Mb 19p13.12–p13.13 deletion. Compared to previously reported individuals with partially overlapping deletions, the propositus presented with a less severe phenotype, consisting of mild intellectual disability and behavior anomalies, with episodes of simple febrile s...

Descripción completa

Detalles Bibliográficos
Autores principales: Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363957/
https://www.ncbi.nlm.nih.gov/pubmed/22419660
http://dx.doi.org/10.1002/ajmg.a.35254

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363957/
https://www.ncbi.nlm.nih.gov/pubmed/22419660
http://dx.doi.org/10.1002/ajmg.a.35254

Ejemplares similares