The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole‐exome sequencing antenatally, we must describe the genetic abnormalities, ante...

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Detalles Bibliográficos
Autores principales: Hodgetts Morton, Victoria, Quinlan‐Jones, Elizabeth, Butts, Natasha, Williams, Denise, Hamilton, Sue, Marton, Tamas, Morris, Katie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771919/
https://www.ncbi.nlm.nih.gov/pubmed/29375862
http://dx.doi.org/10.1002/ccr3.1285

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771919/
https://www.ncbi.nlm.nih.gov/pubmed/29375862
http://dx.doi.org/10.1002/ccr3.1285

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