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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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Hodgetts Morton, Victoria, Quinlan‐Jones, Elizabeth, Butts, Natasha, Williams, Denise, Hamilton, Sue, Marton, Tamas, Morris, Katie
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771919/
https://ncbi.nlm.nih.gov/pubmed/29375862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1285
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