| 一例22号环状染色体合并22ql3微缺失综合征患儿的临床及遗传学分析 |
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| 引用本文： | 孔京慧,章波,葛丽丽,宋银森. 一例22号环状染色体合并22ql3微缺失综合征患儿的临床及遗传学分析[J]. 中华医学遗传学杂志, 2020, 0(2): 175-177 |
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| 作者姓名： | 孔京慧 章波 葛丽丽 宋银森 |
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| 作者单位： | 郑州大学附属儿童医院河南省儿童医院 |
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| 基金项目： | 国家卫生计生委重大疾病防治科技行动计划(ZX-01-C2016074)。 |
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| 摘 要： | 目的探讨1例语言发育滞后患儿的遗传学病因。方法对患儿进行外周血染色体G显带分析以及单核昔酸多态性微阵列芯片(single nucleotide polymorphism microarray,SNP array)检测。结果患儿染色体核型为46,XY,r(22)(pll.2ql3),SNP array检测在22ql3区发现一处1.67 Mb的缺失,具体为arr[Hgl9]22ql3.33(49531302〜51197766)X1O结论患儿同时携带22号环状染色体以及22ql3微缺失,为明确其病因和遗传咨询提供了重要的线索。
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| 关 键 词： | 22号环状染色体 22q13微缺失综合征 语言发育滞后 |
Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion |
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| Kong Jinghui,Zhang Bo,Ge Lili,Song Yinsen. Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion[J]. Chinese journal of medical genetics, 2020, 0(2): 175-177 |
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| Authors: | Kong Jinghui Zhang Bo Ge Lili Song Yinsen |
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| Affiliation: | (Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases,Children's Hospital Affiliated to Zhengzhou University f Henan Provincial Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou,Henan 450003,China) |
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| Abstract: | Objective To explore the genetic basis for a child featuring delayed language development.Methods The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray(SNP array)analysis.Results The karyotype of the child was 46,XY,r(22)(p11.2q13).SNP array analysis has identified a hemizygous 1.67 Mb deletion at 22q13(arr[Hg19]22q13.33(49531302-51197766)XI).Conclusion The child has carried a ring 22 in addition with a 22q13 microdeletion.The results may provide clues for her condition and genetic counseling for the family. |
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| Keywords: | Ring chromosome 22 22q13 microdeletion syndrome Language developmental delay |
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