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

• Hyun JK
• Jung YJ

• KMID: 2435953
• DOI: http://doi.org/10.5734/JGM.2018.15.2.115

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.

Keyword

Microarray analysis; Gene deletion; Premature birth

MeSH Terms

Autism Spectrum Disorder
Chromosome Aberrations
Epilepsy
Gene Deletion
Heart Defects, Congenital
Humans
Infant, Newborn
Infant, Premature*
Intellectual Disability
Microarray Analysis
Obesity
Premature Birth