Article
ATR-16 due to a de novo complex rearrangement of chromosome 16.
Hemoglobin - 1 Jan 2005
Gallego Marta S, Zelaya Gabriela, Feliu Aurora S, Rossetti Liliana, Shaffer Lisa G, Bailey Kristen A, Bacino Carlos A, Barreiro Cristina Z
Abstract excerpt
We describe a child with ATR-16 [alpha-thalassemia (thal)/mental retardation], who was referred for genetic evaluation because of minor anomalies and developmental delay. Cytogenetic analysis demonstrated a de novo complex rearrangement of chromosome 16. Fluorescence in situ hybridization (FISH) analysis, using chromosome 16 subtelomeric probes, showed that this patient had a deletion of the distal short arm of...
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