Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion
石佳旻 1陈尚勤 2鲁爱慧 3梁雅琴 1王楸 1卢朝升 1王丹 1许芯 李岭
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作者信息
1. 1温州医科大学附属第一医院儿科，温州 325000
2. 2温州医科大学附属第二医院新生儿科，温州 325000
3. 3温州医科大学附属第一医院超声影像科，温州 325000
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摘要
目的 探讨1例特殊面容合并多发畸形患儿的遗传学病因并分析其与临床表型的相关性。 方法 选取2020年11月4日因"孕妇胎膜早破、双胎妊娠(双绒毛膜双羊膜囊)、妊娠期糖尿病"于孕34+6周自然分娩出生的1例患儿作为研究对象，应用常规G显带方法分析患儿的染色体核型，再用高通量测序法分析患儿拷贝数变异(CNVs)的情况。 结果 患儿为男性，顺产出生，表现为特殊面容、尿道下裂、隐睾、四肢肌张力低等。患儿染色体核型为46，XY，del(3)(p26)，高通量测序结果提示染色体3p26.3-p25.3 (60 000-9 860 000)存在约9.80 Mb的缺失，共涉及33个蛋白编码基因。 结论 3p26.3p25.3缺失可能是患儿的致病原因，需对其进行持续随访，提高生存质量。 Objective To explore the genetic basis for a child with facial dysmorphism and multiple malformations. Methods The child, born at 34+ 6 week gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations (CNVs) sequencing. Results The child was found to have facial dysmorphism, hypospadia, cryptorchidism and hypotonia. He was found to have a karyotype of 46, XY, del(3)(p26) in addition with a 9.80 Mb deletion (chr3: 60 000-9 860 000) which has involved 33 protein coding genes. Conclusion The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child. Continuous follow-up is required to improve his quality of life.
Abstract
Objective To explore the genetic basis for a child with facial dysmorphism and multiple malformations. Methods The child, born at 34+ 6 week gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations (CNVs) sequencing. Results The child was found to have facial dysmorphism, hypospadia, cryptorchidism and hypotonia. He was found to have a karyotype of 46, XY, del(3)(p26) in addition with a 9.80 Mb deletion (chr3: 60 000-9 860 000) which has involved 33 protein coding genes. Conclusion The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child. Continuous follow-up is required to improve his quality of life.
关键词
3p26.3p25.3缺失/SETD5基因/拷贝数变异/特殊面容/多发畸形
Key words
3p26.3p25.3 deletion/SETD5 gene/Copy number variation/Facial dysmorphism/Multiple malformation
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