MOE Key Laboratory of Tumor Molecular Biology and Key Laboratory of Functional Protein Research of Guangdong Higher Education Institutes, Institute of Life and Health Engineering, College of Life Science and Technology, Jinan University, Guangzhou, China.
Clinical Medical Research Center, The Second Clinical Medical College of Jinan University (Shenzhen People's Hospital), Shenzhen, China.
Mol Genet Genomic Med. 2021 Mar;9(3):e1605. doi: 10.1002/mgg3.1605. Epub 2021 Feb 4.
The 15q11-q13 region contains three breakpoints (BP1 to BP3), and copy number variations often occur in the region.
15q11-q13 microdeletion and microduplication are usually associated with Prader-Willi and Angelman syndromes, respectively. It is not yet clear to what extent microdeletion and microduplication affect the physical health of the fetus and the child. In this study, we examined seven fetuses ranging in gestational age from 15 to 27 weeks.
MATERIALS & METHODS: Detailed prenatal screening and laboratory examinations were performed, while karyotype analysis and chromosomal microarray analysis (CMA) of the amniotic fluid and umbilical cord blood were applied for genetic analysis.
CMA analysis showed that four fetuses harbored a microdeletion and one fetus showed a microduplication at 15q11.2 BP1-BP2, two fetuses had a microdeletion at 15q11-q13 BP2-BP3, and one fetus had an additional microdeletion at 16p13.11.
There is no clear standard for the clinical diagnosis of 15q11-q13 microdeletion and microduplication, some of them have clinical phenotypes or are clinically affected.
Therefore, parents of such fetuses should be informed of the possibility of microdeletions or microduplications to mitigate the psychological burden, and medical consultation and assistance should be provided when communicating the results of the mid-gestation screening.
15q11-q13 区域包含三个断裂点（BP1 至 BP3），并且该区域经常发生拷贝数变异。
15q11-q13 微缺失和微重复分别与 Prader-Willi 和 Angelman 综合征相关。微缺失和微重复在多大程度上影响胎儿和儿童的身体健康尚不清楚。在这项研究中，我们检查了七个妊娠龄为 15 至 27 周的胎儿。
进行了详细的产前筛查和实验室检查，同时对羊水和脐血进行了核型分析和染色体微阵列分析（CMA）进行遗传分析。
CMA 分析显示，四个胎儿携带 15q11.2 BP1-BP2 处的微缺失，一个胎儿显示 15q11 处的微重复，两个胎儿在 15q11-q13 BP2-BP3 处有微缺失，一个胎儿在 16p13.11 处有额外的微缺失。
15q11-q13 微缺失和微重复的临床诊断标准尚不清楚，其中一些具有临床表型或临床受影响。
因此，应告知此类胎儿的父母存在微缺失或微重复的可能性，以减轻心理负担，并在沟通中期筛查结果时提供医疗咨询和帮助。
