Abstract
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) |
---|---|
Pages (from-to) | 451-454 |
Number of pages | 4 |
Journal | American journal of medical genetics |
Volume | 72 |
Issue number | 4 |
DOIs | |
State | Published - Nov 12 1997 |
Keywords
- Contiguous gene syndrome
- Microdeletion
- Thalassemia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)