Editor—Duplication of proximal segments of the long arm of chromosome 10 is rare and results in a pattern of malformations and dysmorphic features that are distinct from those of the more common distal 10q trisomy syndrome. To our knowledge, only nine patients with proximal 10q trisomy have been documented. Well defined clinical features of proximal 10q trisomy syndrome are growth and developmental retardation, ocular malformations like iris coloboma and retinal dysplasia, craniofacial dysmorphism, cardiac defects, and skeletal changes.1-9 We describe anal atresia with fistula, coloboma of the iris, retinal dysplasia, developmental delay, and unusual facial features in a girl with de novo direct duplication of 10q11.2-22.3. In order to delineate the syndrome further, her phenotype at birth and on follow up at 8 months of age is also compared with the known cases.

Our proband is a Chinese girl, the second child born to a pair of non-consanguineous, healthy parents. She was born at term with a birth weight of 3000 g (50th centile) after an uneventful antenatal period. She was then ascertained because of multiple congenital anomalies including multiple capillary haemangiomata, bilateral micro-ophthalmia with colobomata of the irides, imperforate anus, and structural club feet. Further radiological contrast study confirmed anal atresia of low type, with an anovaginal fistula just above the anatomical anal verge. Detailed ophthalmological examination …