A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2.
Setting
The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life.
Results
A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents’ chromosomes were normal, indicating a de novo duplication of 2q13q23.
Conclusion
Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13.
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