We describe a child with α-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 α-globin genes. Analysis of the α-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 (α-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes.
|Original language||English (US)|
|Number of pages||4|
|Journal||American journal of medical genetics|
|State||Published - Nov 12 1997|
- Contiguous gene syndrome
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