Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line...

Descripción completa

Detalles Bibliográficos
Autores principales: Shackelford, Amy L., Conlin, Laura K., Hummel, Marybeth, Spinner, Nancy B., Wenger, Sharon L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787625/
https://www.ncbi.nlm.nih.gov/pubmed/24151566
http://dx.doi.org/10.1155/2013/857926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787625/
https://www.ncbi.nlm.nih.gov/pubmed/24151566
http://dx.doi.org/10.1155/2013/857926

Ejemplares similares