Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism.
10.5734/JGM.2018.15.2.115
- Author:
Ju Kyung HYUN
1
;
Yu Jin JUNG
Author Information
1. Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Korea. hasaohjung@hanmail.net
- Publication Type:Case Report
- Keywords:
Microarray analysis;
Gene deletion;
Premature birth
- MeSH:
Autism Spectrum Disorder;
Chromosome Aberrations;
Epilepsy;
Gene Deletion;
Heart Defects, Congenital;
Humans;
Infant, Newborn;
Infant, Premature*;
Intellectual Disability;
Microarray Analysis;
Obesity;
Premature Birth
- From:Journal of Genetic Medicine
2018;15(2):115-119
- CountryRepublic of Korea
- Language:English
-
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.
