Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

BACKGROUND: Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtelomeric deletions are also becoming recognised. However, reciprocal duplication...

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Detalles Bibliográficos
Autores principales: Ahn, Joo Wook, Mann, Kathy, Docherty, Zoe, Mackie Ogilvie, Caroline
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375878/
https://www.ncbi.nlm.nih.gov/pubmed/18471307
http://dx.doi.org/10.1186/1755-8166-1-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375878/
https://www.ncbi.nlm.nih.gov/pubmed/18471307
http://dx.doi.org/10.1186/1755-8166-1-2

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