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  • Title: A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.
    Author: Van den Boogaard MJ, De Pater J, Hennekam RC.
    Journal: Genet Couns; 1991; 2(2):83-91. PubMed ID: 1781959.
    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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