8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

BACKGROUND: The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our...

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Detalles Bibliográficos
Autores principales: Barber, John CK, Bunyan, Dave, Curtis, Merryl, Robinson, Denise, Morlot, Susanne, Dermitzel, Anette, Liehr, Thomas, Alves, Claudia, Trindade, Joana, Paramos, Ana I, Cooper, Clare, Ocraft, Kevin, Taylor, Emma-Jane, Maloney, Viv K
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846957/
https://www.ncbi.nlm.nih.gov/pubmed/20167067
http://dx.doi.org/10.1186/1755-8166-3-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846957/
https://www.ncbi.nlm.nih.gov/pubmed/20167067
http://dx.doi.org/10.1186/1755-8166-3-3

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