Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report

INTRODUCTION: Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi syndrome patients, leaving the diagnosis in 45% of patients to rest on clinic...

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Detalles Bibliográficos
Autores principales: Mohd Fadley, Md A, Ismail, Azli, Keong, Thong Meow, Yusoff, Narazah Mohd, Zakaria, Zubaidah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295639/
https://www.ncbi.nlm.nih.gov/pubmed/22269667
http://dx.doi.org/10.1186/1752-1947-6-30

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