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Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
J Genet Med 2018;15:115-119
Published online December 31, 2018;  https://doi.org/10.5734/JGM.2018.15.2.115
© 2018 Korean Society of Medical Genetics and Genomics.

Ju Kyung Hyun and Yu Jin Jung*

Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea
Yu Jin Jung, M.D., Ph.D. http://orcid.org/0000-0001-7945-0511
Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, 262 Gamcheon-ro, Seo-gu, Busan 49267, Korea.
Tel: +82-51-990-3336, Fax: +82-50-4392-7893, E-mail: hasaohjung@hanmail.net
Received May 22, 2018; Revised July 24, 2018; Accepted July 24, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Microarray analysis, Gene deletion, Premature birth


December 2018, 15 (2)
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