Chen C-P, Lin S-P, Hsu C-H, Chern S-R, Su J-W, Chen Y-J, Pan C-W, Wang W
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Genet Couns. 2012;23(2):223-9.
We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndrome. The patient had growth restriction, petechiae, thrombocytopenia, dilation of renal pelvis, congenital heart defects, and seizures. Array comparative genomic hybridization revealed a 15.8-Mb deletion from 11q23.3 to 11q25 without genomic imbalances in other chromosomes. Cytogenetic analysis revealed a karyotype of 46,XX,der(7)(7pter-->7q32),der(11)(11pter--> 11q23.3::7q32-->7qter). The parental karyotypes were normal. This is the first report of pure distal 11q deletion without additional genomic imbalances in a patient with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
我们报告了一名患有11号染色体长臂远端纯缺失（11q23.3→qter）及雅各布森综合征的新生儿。该患者存在生长受限、瘀点、血小板减少、肾盂扩张、先天性心脏缺陷及癫痫发作。阵列比较基因组杂交显示从11q23.3至11q25有一个15.8 Mb的缺失，其他染色体无基因组失衡。细胞遗传学分析显示核型为46,XX，der(7)(7pter→7q32)，der(11)(11pter→11q23.3::7q32→7qter)。父母的核型正常。这是首例关于雅各布森综合征患者中单纯11号染色体长臂远端缺失且无其他基因组失衡以及新发不平衡相互易位的报告。
