Description of the rearrangements in 44 subjects with 22q13 deletions.

K: karyotype; Tel-FISH: Subtelomeric Fish analysis (Tel Vysion Vysis or Tel kit Cytocell);Tel-MLPA: MLPA analysis of the 22q subtelomeric region; aCGH: array-CGH; F: female; M: male; Mat: maternal, Pat: paternal; Mb: megabases; bp: base pairs. The total size is calculated between breakpoints or between the breakpoint and the end of chromosome 22 assembly (UCSC hg18).aReference [15];bReference [16].

K：核型（karyotype）；Tel-FISH：亚端粒荧光原位杂交分析（Subtelomeric Fish analysis，使用Tel Vysion Vysis试剂盒或Cytocell Tel试剂盒进行检测）；Tel-MLPA：22q亚端粒区域的多重连接依赖性探针扩增（MLPA）分析；aCGH：阵列比较基因组杂交（array-CGH）；F：女性（female）；M：男性（male）；Mat：母源性（maternal），Pat：父源性（paternal）；Mb：兆碱基（megabases）；bp：碱基对（base pairs）。总片段长度通过断裂点之间，或断裂点与22号染色体组装序列（UCSC hg18）末端之间的距离计算得出。a参考文献[15]；b参考文献[16]。