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.
|Journal||Clinical Case Reports|
|Early online date||11 Dec 2017|
|Publication status||Published - 1 Jan 2018|
- KBG syndrome
- prenatal diagnosis