Martínez-Juárez Alejandro, Uribe-Figueroa Laura, Quintana-Palma Mónica, Razo-Aguilera Guadalupe, Sevilla-Montoya Rosalba
Department of Human Genomics, National Institute of Perinatology, Mexico City, Mexico.
Cytogenet Genome Res. 2014;142(4):249-54. doi: 10.1159/000362141. Epub 2014 Apr 15.
Pure partial trisomy 2p patients have rarely been reported. Oligonucleotide array analysis has proved to be important for examining 2p rearrangements to delineate the involved segment and to rule out additional imbalances modifying the phenotype. Here, we report 2 siblings with an unbalanced translocation that led to a partial trisomy 2p (p22.3pter) and a terminal deletion of 12q (q24.33qter). This finding was characterized by the molecular karyotyping of both siblings. The 12q loss spanned approximately 300 kb and did not yield clinical features in our patients. The trisomic region in the short arm of chromosome 2 spanned 32.8 Mb and yielded phenotypic features of pure distal 2p trisomy, notably facial anomalies, growth failure, and psychomotor delay. The clinical features of our patients help to delineate the phenotype of the pure trisomy 2p syndrome. Patient 2 also showed a horseshoe kidney which is a previously unrecognized defect associated with this syndrome.
纯2号染色体短臂部分三体患者鲜有报道。寡核苷酸阵列分析已被证明对于检查2号染色体短臂重排以确定受累片段及排除改变表型的其他不平衡情况很重要。在此，我们报告2例患有不平衡易位的同胞，该易位导致2号染色体短臂部分三体（p22.3-pter）及12号染色体长臂末端缺失（q24.33-qter）。通过对两例同胞进行分子核型分析对这一发现进行了特征描述。12号染色体长臂缺失区域约300 kb，在我们的患者中未产生临床特征。2号染色体短臂的三体区域跨度为32.8 Mb，并产生了纯2号染色体短臂远端三体的表型特征，尤其是面部异常、生长发育迟缓及精神运动发育迟缓。我们患者的临床特征有助于明确纯2号染色体三体综合征的表型。患者2还表现出马蹄肾，这是此前未被认识到的与该综合征相关的缺陷。
