Manolakos Emmanouil, Orru Sandro, Neroutsou Rosita, Kefalas Konstantinos, Louizou Eirini, Papoulidis Ioannis, Thomaidis Loretta, Peitsidis Panagiotis, Sotiriou Sotirios, Kitsos George, Tsoplou Panagiota, Petersen Michael B, Metaxotou Aikaterini
Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece.
Mol Cytogenet. 2009 Dec 9;2:26. doi: 10.1186/1755-8166-2-26.
Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancytopenia or thrombocytopenia may be indicative for JBS.
We report a 7.5 years old boy presenting with speech development delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result.
Our results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS.
雅各布森综合征（JBS）是一种罕见的染色体疾病，会导致多种身心障碍。该综合征由11号染色体部分缺失引起，尤其是已证实11q24.1亚带与之相关。临床病例可能容易漏诊，然而全血细胞减少或血小板减少可能提示JBS。
我们报告了一名7.5岁男孩，表现为言语发育迟缓、听力障碍和血小板功能异常。高分辨率SNP寡核苷酸微阵列分析显示在11q24.1 - 11qter区域存在一个大小为11.4 Mb的末端缺失。这一特定缺失包含约170个基因。使用了其他分子技术，如荧光原位杂交和多重连接依赖探针扩增来确认阵列结果。
我们的结果表明，对血小板功能异常且临床特征较轻的类似患者进行识别和详细分析，将有助于识别更多11q缺失和JBS患者。
