Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongen...

Descripción completa

Detalles Bibliográficos
Autores principales: Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498850/
https://www.ncbi.nlm.nih.gov/pubmed/26185636
http://dx.doi.org/10.1002/ccr3.241
Descripción
Sumario:A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors.

Ejemplares similares