临床与遗传学研究：三个 15q11q13 重复家族。
Clinical and genetic study of three families with 15q11q13 duplications.
机构信息
Department of Clinical Laboratory, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, China.
School of Artificial Intelligence and Automation, Huazhong University of Science and Technology, Wuhan, Hubei, China.
出版信息
Taiwan J Obstet Gynecol. 2022 Jul;61(4):717-721. doi: 10.1016/j.tjog.2021.12.004.
OBJECTIVE
To report three families with chromosome 15q11q13 duplications.
CASE REPORT
We report the prenatal diagnosis and genetic counseling of three 15q11q13 duplications.
CONCLUSION
Chromosomal microdeletions and microduplications are difficult to be detected by conventional cytogenetics. With molecular genetic techniques including array-based methods, the number of reported cases has rapidly increased. An integration of prenatal ultrasound, NIPT, karyotype analysis, CMA and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.
目的
报道三例染色体 15q11q13 重复病例。
病例报告
我们报道了三例 15q11q13 重复的产前诊断和遗传咨询。
结论
常规细胞遗传学难以检测染色体微缺失和微重复。随着包括阵列方法在内的分子遗传学技术的应用，报告的病例数量迅速增加。将产前超声、NIPT、核型分析、CMA 和遗传咨询相结合，有助于染色体微缺失/微重复的产前诊断。
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