De novo 16p deletion: ATR-16 syndrome.

  title={De novo 16p deletion: ATR-16 syndrome.},
  author={Noralane M. Lindor and Maria G Valdes and Macdonald Wick and Stephen N. Thibodeau and Syed M Jalal},
  journal={American journal of medical genetics},
  volume={72 4},
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… CONTINUE READING