15q24 微缺失的产前诊断和分子细胞遗传学特征。
Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2020 May;59(3):432-436. doi: 10.1016/j.tjog.2020.03.017.
OBJECTIVE
We present prenatal diagnosis, molecular cytogenetic characterization and genetic counseling of a chromosome 15q24 microdeletion of paternal origin.
CASE REPORT
A 34-year-old primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Simultaneous array comparative genomic hybridization (aCGH) analysis on amniotic fluid revealed a de novo 2.571-Mb microdeletion of 15q24.1-q24.2. Prenatal ultrasound findings were unremarkable except persistent left superior vena cava and enlarged coronary sinus. The woman requested repeat amniocentesis at 22 weeks of gestation, and aCGH analysis confirmed the result of arr 15q24.1q24.2 (72,963,970-75,535,330) × 1.0 [GRCh37 (hg19)] and a 15q24 microdeletion encompassing the genes of STRA6, CYP11A1, SEMA7A, ARID3B, CYP1A1, CYP1A2, CSK and CPLX3. The parents did not have such a deletion, and polymorphic DNA marker analysis confirmed a paternal origin of the de novo deletion. Metaphase fluorescence in situ hybridization analysis confirmed a 15q24 deletion. The parents elected to terminate the pregnancy, and a malformed fetus was delivered with characteristic facial dysmorphism.
CONCLUSION
Simultaneous aCGH analysis of uncultured amniocytes at amniocentesis may help to detect rare de novo microdeletion disorders.
目的
我们介绍了一例父源 15q24 微缺失的产前诊断、分子细胞遗传学特征和遗传咨询。
病例报告
一名 34 岁初产妇因高龄接受了 17 周的羊膜穿刺术。羊膜穿刺术显示核型为 46，XY。同时进行的羊水微阵列比较基因组杂交（aCGH）分析显示，15q24.1-q24.2 存在一个 2.571Mb 的新发微缺失。产前超声检查除持续性左上腔静脉和扩大的冠状窦外无明显异常。该妇女要求在 22 周时再次进行羊膜穿刺术，aCGH 分析证实了 arr 15q24.1q24.2（72,963,970-75,535,330）×1.0 [GRCh37（hg19）]和 15q24 微缺失，包含 STRA6、CYP11A1、SEMA7A、ARID3B、CYP1A1、CYP1A2、CSK 和 CPLX3 基因。父母没有这种缺失，多态性 DNA 标记分析证实了新发缺失的父源起源。中期荧光原位杂交分析证实了 15q24 缺失。父母选择终止妊娠，分娩出一个具有特征性面部畸形的畸形胎儿。
结论
在羊膜穿刺术时对未培养的羊水细胞进行同步 aCGH 分析可能有助于检测罕见的新发微缺失疾病。
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