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

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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.
Original languageEnglish
Pages (from-to)189-191
JournalClinical Case Reports
Volume6
Issue number1
Early online date11 Dec 2017
DOIs
Publication statusPublished - 1 Jan 2018

Keywords

  • ANKRD11
  • KBG syndrome
  • prenatal diagnosis

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