J Genet Med.  2018 Dec;15(2):115-119. 10.5734/JGM.2018.15.2.115.

Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

  • 1Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea. hasaohjung@hanmail.net


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.


Microarray analysis; Gene deletion; Premature birth
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