HBA1 and anemia (phenotype): In fetus 9, we detected a pathogenic microdeletion of 235 kb on 16p13.1, involving HBA1 and HBA2. This microdeletion is associated with ATR‐16 syndrome, with phenotypes of anemia associated with α‐thalassemia, intellectual disability, skeletal abnormalities, facial dysmorphism, and short stature (Gibbons, 2012).