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De novo 16p deletion: ATR-16 syndrome

1997; Wiley; Volume: 72; Issue: 4 Linguagem: Inglês

10.1002/(sici)1096-8628(19971112)72

1096-8628

Noralane M. Lindor, Maria G. Valdes, Myra J. Wick, Stephen N. Thibodeau, Syed M. Jalal,

Pediatric Hepatobiliary Diseases and Treatments

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.