Supplementary Material for: Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay

This study describes a molecular analysis of partial trisomy 14q and partial trisomy 12p in a 5-year-old male child presenting with dysmorphic features, congenital heart disease and global developmental delay. Chromosomal analysis of the patient with GTG bands revealed a 47,XY,+der(14)t(12;14)(p13;q22)mat karyotype; the mother's karyotype was 46,XX,t(12;14)(p13;q22). Further, oligonucleotide array- CGH studies revealed an amplification of 32.3 Mb in the 14q11.1q22.1 region, substantiating partial trisomy 14q and additionally displaying an amplification of ∼1 Mb in the 12p13.3pter region for partial trisomy 12p. This is the first study to demonstrate a novel association of partial trisomies of 14q and 12p due to a 3:1 segregation of a maternal balanced translocation involving chromosomes 12 and 14. Gene ontology studies indicated 5 potential candidate genes in the amplified regions for the observed congenital anomalies.

本研究针对一名表现为形态异常特征（dysmorphic features）、先天性心脏病及全面性发育迟缓的5岁男性患儿，开展了14q部分三体（partial trisomy 14q）与12p部分三体（partial trisomy 12p）的分子遗传学分析。对该患儿实施的GTG带（GTG bands）染色体核型（karyotype）分析结果显示，其核型为47,XY,+der(14)t(12;14)(p13;q22)mat；患儿母亲的核型为46,XX,t(12;14)(p13;q22)。进一步的寡核苷酸阵列比较基因组杂交（oligonucleotide array-CGH）分析显示，14q11.1-q22.1区域存在32.3 Mb的片段扩增，证实了14q部分三体的存在；同时还发现12p13.3-端粒（pter）区域存在约1 Mb的片段扩增，对应12p部分三体。本研究首次证实，因涉及12号与14号染色体的母体平衡易位发生3:1分离，所导致的14q部分三体与12p部分三体的联合异常属于一种全新的关联表型。基因本体（Gene Ontology）分析显示，在上述扩增区域中存在5个与本次研究观察到的先天性异常相关的潜在候选基因。