De novo 16p deletion: ATR-16 syndrome

Am J Med Genet. 1997 Nov 12;72(4):451-4.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16*
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Syndrome
  • alpha-Thalassemia / genetics*