Departments of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.
Yonsei Med J. 2010 Sep;51(5):775-80. doi: 10.3349/ymj.2010.51.5.775.
The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13).
We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data.
Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13).
Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.
染色体 9 着丝粒倒位是最常见的结构平衡染色体变异之一，在正常人群和具有各种异常表型和疾病的患者中均有发现。本研究旨在重新评估 inv(9)(p11q13)的临床影响。
我们研究了 2004 年至 2008 年在亚洲大学附属医院儿科诊所就诊的 431 例先天性畸形新生儿的核型，并回顾性分析了他们的临床资料。
在 60 名患者（13.9%）中发现了染色体异常。最常见的结构性异常类型是 inv(9)(p11q13)，在 8 名患者中发现。临床调查显示，所有 8 例 inv(9)(p11q13)患者均有各种先天性异常，包括：多指、马蹄内翻足、小耳畸形、耳聋、不对称面容、巨大 Meckel 憩室、十二指肠膈、小肠旋转不良、肺动脉瓣狭窄、心肌病、心律失常和宫内生长受限。父母的细胞遗传学分析显示，所有病例均为新发杂合子 inv(9)(p11q13)。
由于我们的结果表明，先天性畸形患者 inv(9)(p11q13)的发生率与正常人群无显著差异，因此 inv(9)(p11q13)似乎与先天性畸形无关。一些其他目前未知的畸形原因仍有待确定。
