Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

  • Hyun, Ju Kyung (Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine) ;
  • Jung, Yu Jin (Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine)
  • Received : 2018.05.22
  • Accepted : 2018.07.24
  • Published : 2018.12.31
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Abstract

The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.

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References

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