临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (9): 707-.doi: 10.3969/j.issn.1000-3606.2020.09.016

• 综合报道 • 上一篇    

新发8p 重复伴缺失综合征患儿细胞分子遗传学研究

刘芙蓉, 郝胜菊, 张钏, 周秉博, 王兴, 郑雷   

  1. 甘肃省妇幼保健院医学遗传学中心 甘肃省出生缺陷防控重点实验室(甘肃兰州 730050)
  • 发布日期:2020-09-17

Cytogenetic and molecular genetic study of duplication deletion of 8p in a new case

 LIU Furong, HAO Shengju, ZHANG Chuan, ZHOU Bingbo, WANG Xing, ZHENG Lei   

  1. Gansu Provincial Maternity and Child-Care Hospital, Birth Defects Prevention and Control in Gansu Province Key Laboratory, Lanzhou 730050, Gansu, China
  • Published:2020-09-17

摘要: 目的 探讨8号染色体短臂倒位重复伴末端缺失[inv dup del(8p) ]综合征的临床特征及细胞分子遗传学特点。 方法 回顾分析1例inv dup del(8p)综合征患儿的临床资料以及细胞分子遗传学分析资料。结果 6月龄女性患儿,具有 发育迟缓、特殊面容、先天性心脏病及喉软化症等临床表现。外周血淋巴细胞染色体核型分析显示,患儿为46,XX,der(8) inv dup(8)( p21),del(8)( p23),父母均无异常;高通量测序染色体组拷贝数分析(CNV)精确定位拷贝数异常改变的染 色体片段区域,检出患儿在8p23.3-p23.1(160 001-7 120 000)区域缺失6.96 Mb片段,在8p23.1-p21.1(12 560 001- 27 940 000)区域,重复15.38 Mb片段;荧光定量PCR验证CNV显示在重复和缺失片段之间有一个5.4 Mb的拷贝数正常片 段。结合临床表现及各检测结果确诊患儿为inv dup del(8p)综合征。结论 结合临床特征、外周血染色体核型分析、CNV 及荧光定量PCR技术可有效确诊inv dup del(8p)综合征。

关键词:  8p倒位重复伴末端缺失; 染色体核型分析技术; 拷贝数变异; 荧光定量聚合酶链式反应

Abstract:  Objective To explore the clinical and cytogenetic characteristics of 8p inverted duplication deletion [inv dup del (8p)] syndrome. Method The clinical data and cytomolecular genetic analysis data of a child with inv dup del (8p) syndrome were retrospectively analyzed. Results A 6-month-old girl had clinical manifestations of developmental delay, special facial features, congenital heart disease, and laryngomalacia. Chromosome karyotype analysis of peripheral blood lymphocytes showed that the child was 46, XX, der (8) inv dup (8) (p21), del (8) (p23), and there was no abnormality in her parents. Copy number analysis (CNV) of high-throughput sequencing genome was used to accurately locate the chromosomal regions with abnormal copy number changes. The CNV detection showed the deletion of 6.96 Mb in 8p23.3-p23.1 (160001-7120000) region and the duplication of 15.38 MB in 8p23.1-p21.1 (12560001-27940000) region. Real-time PCR verification of CNV showed a 5.4 Mb normal copy number fragment between the duplicate and deleted fragments. Based on the combination of clinical manifestations and various test results, the child was diagnosed with inv dup del (8p) syndrome. Conclusion Clinical features, karyotype analysis of peripheral blood, CNV and fluorescent quantitative PCR technology in combination can effectively diagnose inv dup del (8p) syndrome.

Key words:  inv dup del(8p); chromosome karyotype analysis; copy number variation; real-time PCR