We describe a child with alpha-thalassemia ascertained by newborn screening. 
Evaluation at 9 months of age showed minor anomalies and developmental delay. 
Chromosomal analysis demonstrated a de novo deletion of the most distal portion 
of the short arm of chromosome 16, which contains the alpha-globin genes. 
Analysis of the alpha-globin locus by Southern blot analysis did not demonstrate 
altered band sizes at this locus; however, analysis of the films using 
densitometry confirmed hemizygosity. This is the fifth reported case of the 
ATR-16 syndrome (alpha-thalassemia retardation-16) not complicated by 
duplication or deletion of other chromosomes.