目的探讨17 p 13.3微缺失综合征的临床表型、拷贝数变异、治疗及预后。方法回顾性分析5例17p13.3微缺失综合征患儿临床资料、全外显子组测序结果以及治疗效果。结果5例患儿均表现为身材矮小,例3~5合并有心血管异常。全外显子组测序提示...目的探讨17 p 13.3微缺失综合征的临床表型、拷贝数变异、治疗及预后。方法回顾性分析5例17p13.3微缺失综合征患儿临床资料、全外显子组测序结果以及治疗效果。结果5例患儿均表现为身材矮小,例3~5合并有心血管异常。全外显子组测序提示所有的患儿均存在17p13.3染色体片段缺失,缺失大小为433~1536 kb,主要包括YWHAE、CRK基因,但不包括PAFAH1B1基因。在排除了生长激素禁忌证后,4例接受了重组人生长激素治疗。矮小症患儿的身高在应用重组人生长激素治疗后初期得到改善,但后期治疗效果欠佳。2例满足手术指征而接受外科手术以纠正先天性心脏畸形。结论17p13.3染色体片段缺失可导致17p13.3微缺失综合征,通过全外显子组测序,可以提高对于存在先天性心脏畸形和/或矮小症的儿童的诊断率,及时采取心血管及身高方面的治疗有助于改善患儿预后。展开更多
We report the case of a male patient with Miller-Dieker syndrome(MDS)and gallbladder cancer.Chromosome analysis by fluorescence in situ hybridization revealed a deletion in the 17p13.3 region,an area thought to contai...We report the case of a male patient with Miller-Dieker syndrome(MDS)and gallbladder cancer.Chromosome analysis by fluorescence in situ hybridization revealed a deletion in the 17p13.3 region,an area thought to contain tumour suppressor genes,including the hypermethylated in cancer 1 gene.Considering the rarity of gallbladder cancer in children,we propose that MDS as the genetic background of this patient may have played a role in the occurrence of gallbladder cancer.Conclusion:Our present report indicates that the emergence of cancers should be taken into consideration during the long-term follow-up of patients with MDS.展开更多
文摘目的探讨17 p 13.3微缺失综合征的临床表型、拷贝数变异、治疗及预后。方法回顾性分析5例17p13.3微缺失综合征患儿临床资料、全外显子组测序结果以及治疗效果。结果5例患儿均表现为身材矮小,例3~5合并有心血管异常。全外显子组测序提示所有的患儿均存在17p13.3染色体片段缺失,缺失大小为433~1536 kb,主要包括YWHAE、CRK基因,但不包括PAFAH1B1基因。在排除了生长激素禁忌证后,4例接受了重组人生长激素治疗。矮小症患儿的身高在应用重组人生长激素治疗后初期得到改善,但后期治疗效果欠佳。2例满足手术指征而接受外科手术以纠正先天性心脏畸形。结论17p13.3染色体片段缺失可导致17p13.3微缺失综合征,通过全外显子组测序,可以提高对于存在先天性心脏畸形和/或矮小症的儿童的诊断率,及时采取心血管及身高方面的治疗有助于改善患儿预后。
文摘We report the case of a male patient with Miller-Dieker syndrome(MDS)and gallbladder cancer.Chromosome analysis by fluorescence in situ hybridization revealed a deletion in the 17p13.3 region,an area thought to contain tumour suppressor genes,including the hypermethylated in cancer 1 gene.Considering the rarity of gallbladder cancer in children,we propose that MDS as the genetic background of this patient may have played a role in the occurrence of gallbladder cancer.Conclusion:Our present report indicates that the emergence of cancers should be taken into consideration during the long-term follow-up of patients with MDS.
