Neonatal presentation of chromosome 9q33.2–q34.3 duplication

• Duplication of a specific region of chromosome 9, previously not described.
• Certain phenotypic characteristics of the case described are peculiar and unique.
• It is one of the few cases of this condition using molecular karyotyping methods.
• It adds to literature a neonatal presentation of the entity.

Partial terminal duplication of chromosome 9 is a rare anomaly that is known to be associated with specific dysmorphic features. While having common characteristics, these patients also have inconsistent phenotypic features. These inconsistent features may be attributed to the length and the region of the duplicated segment of chromosome 9. We discuss a case of an infant with similar physical features to those previously reported including dysmorphology of the craniofacial region, hands and feet. However we also describe findings of malrotation and renal anomalies. Microarray demonstrated duplication of 9q33.2–q34.3 with normal parental karyotyping. This is the first reported case of duplication of this specific region of chromosome 9q and the phenotypic presentation represents a new constellation of clinical findings.