[一名患有语言发育迟缓且携带22号环状染色体和22q13微缺失的儿童的临床与遗传学研究]
[Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion].
作者信息
Kong Jinghui, Zhang Bo, Ge Lili, Song Yinsen
机构信息
Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):175-177. doi: 10.3760/cma.j.issn.1003-9406.2020.02.019.
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 (49 531 302-51 197 766)×1).
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.
目的
探究一名语言发育迟缓儿童的遗传基础。
方法
对该患者进行常规G显带染色体核型分析和单核苷酸多态性微阵列（SNP阵列）分析。
结果
该儿童的核型为46, XY, r(22)(p11.2q13)。SNP阵列分析确定在22q13处存在一个1.67 Mb的半合子缺失（arr [Hg19]22q13.33 (49 531 302 - 51 197 766)×1）。
结论
该儿童除了有22号环状染色体外，还存在22q13微缺失。这些结果可为其病情提供线索，并为其家庭提供遗传咨询。
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