查看更多>>摘要：目的 分析1例糖基化障碍(CDG)患儿的临床及分子遗传学特征。 方法 选取2019年12月31日因"生后喂养困难"首诊于浙江大学医学院附属儿童医院保健科的1例生长发育迟缓的男性患儿(4月龄)作为研究对象。应用高通量测序技术进行全外显子组测序，采用qPCR技术对疑似缺失片段及家系成员的携带情况进行验证。 结果 高通量测序显示患儿chrX: 153 045 645-153 095 809区域(约50 kb)捕获信号缺失，涉及SRPK3、IDH3G、SSR4、PDZD等4个OMIM基因；qPCR验证患儿该区域拷贝数完全缺失，患儿兄长及父母则未发现同样的缺失。 结论 Xq28区涉及SSR4基因的片段缺失可能是患儿SSR4-CDG的遗传学病因。 Objective To explore the clinical and molecular characteristics of a child with Congenital disorders of glycosylation (CDG). Methods A 4-month-old boy who had presented at the Children's Hospital Affiliated to Zhejiang University Medical School on December 31, 2019 due to feeding difficulties after birth was selected as the study subject. High-throughput sequencing was carried out for the patient, and real-time qPCR was used for validating the suspected deletion fragments and the carrier status of other members of his family. Results High-throughput sequencing revealed that the child had lost the capture signal for chrX: 153 045 645-153 095 809 (approximately 50 kb), which has involved 4 OMIM genes including SRPK3, IDH3G, SSR4 and PDZD4. qPCR verified that the copy number in this region was zero, while that of his elder brother and parents was all normal. Conclusion The deletion of the fragment containing the SSR4 gene in the Xq28 region probably underlay the SSR4-CDG in this child.
查看更多>>摘要：目的 探讨Turner综合征(TS)中Xp11.22等臂双着丝粒结构异常的遗传学特征。 方法 选取分别于2020年10月与2020年6月就诊于成都市妇女儿童中心医院的2例孕妇及其疑似性染色体异常或超声结果提示异常的胎儿为研究对象。收集2例孕妇的羊水样品进行G显带染色体核型分析、染色体微阵列(CMA)及荧光原位杂交(FISH)检测，并进行遗传学诊断。 结果 胎儿1的染色体核型均为45，X[47]/46，X，psu idic(X)(p11.2)[53]，胎儿2染色体核型为46，X，psu idic(X)(p11.2)。CMA结果提示2例胎儿均存在Xp22.33p11.22区域缺失及p11.22q28区域重复。FISH结果提示2例胎儿的着丝粒位于1条等臂X染色体上。 结论 染色体核型分析、FISH和CMA联合检测诊断出2例Turner综合征胎儿，对染色体复杂结构异常的诊断具有一定辅助作用。高分辨率CMA可以精确定位染色体断裂重排位点，对断裂重排机制研究可提供依据。 Objective To explore the genetic characteristics of idic(X)(p11.22) in Turner syndrome (TS). Methods Two fetuses suspected for sex chromosome abnormalities or ultrasound abnormalities were selected from Chengdu Women′s and Children′s Central Hospital in October 2020 and June 2020, and amniotic fluid samples were collected for G′banded chromosomal karyotyping analysis, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH). Results The two fetuses were respectively found to have a karyotype of 45, X[47]/46, X, psu idic(X)(p11.2)[53] and 46, X, psu idic(X)(p11.2). CMA found that both had deletions in the Xp22.33p11.22 region and duplications in the p11.22q28 region. FISH showed that the centromeres in both fetuses had located on an isochromosome. Conclusion The combination of karyotyping analysis, FISH, and CMA is useful for the delineation of complex structural chromosomal aberrations. High-resolution CMA can accurately identify chromosomal breakpoints, which can provide a clue for elucidating the mechanism of chromosomal breakage and rearrangement.
查看更多>>摘要：染色体核型分析是遗传学最基础的检测方法，也是诊断染色体病的"金标准"。传统的核型分析需要人工对染色体进行识别。能够熟练识别染色体的教学培训时间较长、内容枯燥，且每个学员对染色体形态的掌握能力差异较大，因此需要对传统的核型分析教学过程进行改进。四川大学华西第二医院产前诊断中心在传统教学的基础上，增加了辅助分析软件拼图核型分析教学。此方法不仅提升了学员对于核型分析实践操作中兴趣和能力，使其能够在短时间内牢记正常染色体的特征区带，并且通过对大量核型图像的学习，增强了对染色体异常的识别能力。 Karyotype analysis is the basic method in cytogenetics, and is also recognized as the "gold standard" for diagnosing chromosomal disorders. The teaching and training for traditional karyotyping analysis is time-consuming and even boring. The individual′s ability for mastering the chromosome morphology can vary greatly. Therefore, it is necessary to improve the teaching method. On the basis of the traditional method, we have added auxiliary analysis software during the teaching. This type of splicing karyotype teaching has increased the students′ interest and improved their ability for karyotyping, allowing them to quickly remember the characteristic bands of chromosomes. Through enhanced memory of a large number of karyotypic images, the students′ ability to recognize individual chromosomes has improved.
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