Van den Boogaard M J, De Pater J, Hennekam R C
Clinical Genetics Center Utrecht, The Netherlands.
Genet Couns. 1991;2(2):83-91.
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.
本文描述了一名患有部分9号染色体三体和部分16号染色体长臂三体（16q）的新生儿。该患儿出生后不久因喉闭锁死亡。染色体异常是由于母亲的t(9;16)（q22;q24）易位发生3:1分离所致。本文回顾了关于部分9号染色体三体和部分16号染色体长臂三体的相关文献。所有部分9号染色体三体的病例均为新发或母亲易位的结果，这可能表明印记对这种染色体异常有影响。患者的喉闭锁及其他特征与染色体异常之间的关系仍不确定。
