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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Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: Hodgetts Morton, Victoria, Quinlan‐Jones, Elizabeth, Butts, Natasha, Williams, Denise, Hamilton, Sue, Marton, Tamas, Morris, Katie
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Case Reports
Online Zugang: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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