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

Victoria Hodgetts Morton; Elizabeth Quinlan-Jones; Natasha Butts; Denise Williams; Sue Hamilton; Tamas Marton; Katie Morris

doi:10.1002/ccr3.1285

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

Clin Case Rep. 2017 Dec 11;6(1):189-191. doi: 10.1002/ccr3.1285. eCollection 2018 Jan.

Authors

Victoria Hodgetts Morton^{1

2}, Elizabeth Quinlan-Jones¹, Natasha Butts¹, Denise Williams¹, Sue Hamilton¹, Tamas Marton¹, Katie Morris^{1

2}

Affiliations

¹ Birmingham Women's Hospital Mindelsohn Way Birmingham B15 2TG UK.
² Institute of Metabolism and Systems Research University of Birmingham Birmingham B15 2 TT UK.

Abstract

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, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.

Keywords: ANKRD11; KBG syndrome; prenatal diagnosis.

Publication types

Case Reports