Abstract：
We present a case of a child with congenital thrombotic thrombocytopenic purpura found to have a compound heterozygous variant in the ADAMTS13 gene with a novel variant resulting in a large duplication of exons 9-11 of ADAMTS13 This variant was identified through additional molecular testing via a chromosomal microarray analysis. To our knowledge, this assay had not previously been utilised to identify an ADAMTS13 variant and the additional testing was possible through the involvement of a genetic counsellor.
摘要：
我们介绍了一例患有先天性血栓性血小板减少性紫癜的儿童，该儿童发现ADAMTS13基因中具有复合杂合变体，该变体具有新的变体，导致ADAMTS13外显子9-11的大量重复。通过染色体微阵列分析，通过其他分子测试鉴定了该变体。据我们所知,该检测方法以前未用于鉴定ADAMTS13变异体,通过遗传咨询师的参与,可以进行额外的检测.
