10p 号染色体臂间倒位：产前诊断及分子细胞遗传学特征。
Inv dup del(10p): Prenatal diagnosis and molecular cytogenetic characterization.
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.
Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2019 Sep;58(5):698-703. doi: 10.1016/j.tjog.2019.07.021.
OBJECTIVE
We present molecular cytogenetic characterization of prenatally detected inverted duplication and deletion of 10p [inv dup del(10p)].
CASE REPORT
A 39-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a derivative chromosome 10 with additional material at the end of the short arm of one chromosome 10. Simultaneous array comparative genomic hybridization (aCGH) analysis revealed the result of arr 10p15.3 (136,361-451,013) × 1, 10p15.3p12.1 (536,704-25,396,900) × 3 [GRCh37 (hg19)] with a 0.31-Mb deletion of 10p15.3 encompassing ZMYND11 and DIP2C, and a 24.86-Mb duplication of 10p15.3p12.1. The pregnancy was subsequently terminated, and a female fetus was delivered with facial dysmorphism. Postnatal aCGH analysis showed that the umbilical cord had the same result as that of amniotic fluid, whereas the placenta had only the deletion of 10p15.3. Fluorescence in situ hybridization (FISH) analysis of the cord blood confirmed inverted duplication and deletion of 10p. The cord blood had a karyotype of 46,XX,der(10) del(10) (p15.3)dup(10) (p15.3p12.1)dn. Polymorphic DNA marker analysis confirmed a maternal origin of the chromosome 10 aberration.
CONCLUSION
Prenatal diagnosis of inv dup del(10p) with haploinsufficiency of ZMYND11 should include a genetic counseling of mental retardation and chromosome 10p15.3 microdeletion syndrome. aCGH, FISH and polymorphic DNA marker analysis are useful for perinatal investigation of inv dup del(10p).
目的
我们介绍了产前检测到的 10p 倒位重复缺失[inv dup del(10p)]的分子细胞遗传学特征。
病例报告
一位 39 岁的初产妇因高龄接受了 17 周的羊膜穿刺术。羊膜穿刺术显示一条 10 号染色体的衍生染色体，在 10 号染色体的短臂末端有额外的物质。同时进行的 array 比较基因组杂交（aCGH）分析显示结果为 arr 10p15.3(136,361-451,013)×1、10p15.3p12.1(536,704-25,396,900)×3[GRCh37(hg19)]，10p15.3 缺失 0.31Mb，包含 ZMYND11 和 DIP2C，10p15.3p12.1 重复 24.86Mb。随后终止妊娠，分娩出一名面部畸形的女婴。产后 aCGH 分析显示脐带与羊水的结果相同，而胎盘仅缺失 10p15.3。脐带血的荧光原位杂交（FISH）分析证实了 10p 的倒位重复和缺失。脐带血的核型为 46,XX,der(10)del(10)(p15.3)dup(10)(p15.3p12.1)dn。多态性 DNA 标记分析证实了染色体 10 异常的母源性。
结论
产前诊断 inv dup del(10p)伴 ZMYND11 杂合缺失应包括智力障碍和 10p15.3 微缺失综合征的遗传咨询。aCGH、FISH 和多态性 DNA 标记分析有助于 inv dup del(10p)的围产期研究。
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