Department of Haematology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Int J Lab Hematol. 2012 Feb;34(1):98-101. doi: 10.1111/j.1751-553X.2011.01347.x. Epub 2011 Jun 27.
A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome.
一位 2 岁女孩因轻微创伤后出现右膝积液而到急诊就诊。疑似遭受虐待，进行了全面法医凝血研究，结果显示因子 VIII 轻度缺乏。对 F8 基因的外显子和内含子/外显子边界进行筛查后显示，该患儿似乎为 F8 基因 14 号外显子 c.5123G>A（p.Arg1708His）错义突变的纯合子。该突变与轻度甲型血友病有关。但试剂盒检测结果掩盖了半合子的可能性，随后向遗传科转诊，并进行了 array CGH 检查，结果诊断为特纳综合征。
