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An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. The authors recommend that early ophthalmological assessment is required in infants with such deletions.
Dr. T.L. Montgomery, Department of Clinical Genetics, Northern Genetics Service, 19/20 Claremont Place, Newcastle Upon Tyne NE2 4AA, UK
1.2 Population genetics (Part of: 1 General aspects)