Chromosomal microarray analysis (CMA) is widely recommended as a first-tier diagnostic tool for infants with unexplained hypotonia, dysmorphism, or developmental delay.Although feeding difficulty is not included as a first-tier indication for CMA according to the American College of Medical Genetics and Genomics technical standards, it is a well-recognized clinical feature in individuals with the recurrent 16p12.2deletion 1.The recurrent 16p12.2microdeletion is a pathogenic copy-number variant (CNV) that has been associated with neurodevelopmental delay, feeding difficulties, growth impairment, and a range of behavioral manifestations 234.Recent reviews have emphasized that neurodevelopmental CNVs, including 16p12.2 deletions, demonstrate substantial phenotypic heterogeneity and are associated with diverse cognitive and psychiatric outcomes 567.However, detailed neonatal case descriptions from Korea remain limited, as most Korean data are derived from cohort-level CMA investigations without comprehensive clinical characterization.We present a case of a Korean neonate with a 909 kb recurrent 16p12.2microdeletion, highlighting neonatal hypotonia, feeding difficulties, and subtle dysmorphic features.This case was reviewed and approved by the 1 www.annchildneurol.org
Byun et al. (Wed,) studied this question.