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A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.
Authors:M J Van den Boogaard  J De Pater  R C Hennekam
Institution:Clinical Genetics Center Utrecht, The Netherlands.
Abstract:A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain.
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