9号染色体部分三体综合征

The Partial Trisomy 9 Syndrome

染色体畸变综合征是指由于染色的数目和/或结构异常引起的综合征。随着显带技术的广泛应用,新的染色体畸变综合征不断地被发现,已报告的病种达3,000种以上。其中,染色体部分三体较为罕见,最近,我们应用G、C显带技术发现一例9号染色体部分三体综合征,现报告如下。

One case of the partial trisomy 9 syndrome was described in this report. The patient's karyotype was 47, XX, del ( 9 ) (p ter→q31 ) . She had clinical features which included deferment of growth, mental retardation, multiple congenital anomalies as well as anomalous dermatoglyphics, Review of document on trisomy 9 syndrome and pursuit of origin of patient's chromosome aberration were carried out in this paper.