与父亲臂间倒位相关的胎儿中rec(10)dup(10p)inv(10)(p11.2q26.3)的产前诊断及分子细胞遗传学特征分析
Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.
作者信息
Chen Chih-Ping, Ko Tsang-Ming, Su Yi-Ning, Wang Liang-Kai, Chern Schu-Rern, Wu Peih-Shan, Chen Yen-Ni, Chen Shin-Wen, Ko Kevin, Lee Chen-Chi, Chen Li-Feng, Yang Chien-Wen, Wang Wayseen
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. 2016 Oct;55(5):733-737. doi: 10.1016/j.tjog.2016.07.007.
OBJECTIVE
We present prenatal diagnosis and molecular cytogenetic characterization of a recombinant chromosome 10 in a fetus associated with a paternal pericentric inversion.
CASE REPORT
A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of an advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,der(10)del(10) (q26.3)dup(10)(p11.2p15). She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31.65-Mb duplication of chromosome 10p15.3-p11.22 and a 3.07-Mb deletion of chromosome 10q26.3. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling and cytogenetic analysis revealed a karyotype of 46,XY,inv(10)(p11.2q26.3) in the father and a karyotype of 46,XX in the mother. The pregnancy was subsequently terminated, and a fetus was delivered with prominent facial dysmorphism. Postnatal cytogenetic analysis of the placenta revealed a karyotype of 46,XY, rec(10)dup(10p)inv(10)(p11.2q26.3). Fluorescence in situ hybridization analysis revealed a duplication of terminal 10p and a deletion of terminal 10q in the recombinant chromosome 10. Array comparative genomic hybridization analysis of the cord blood and umbilical cord confirmed the prenatal diagnosis.
CONCLUSION
Prenatal diagnosis of a recombinant chromosome because of an advanced maternal age should alert the possibility of a paternal pericentric inversion.
目的
我们报告了一例与父源性臂间倒位相关的胎儿重组10号染色体的产前诊断及分子细胞遗传学特征。
病例报告
一名35岁女性因高龄产妇在妊娠18周时接受了羊水穿刺术。羊水穿刺术显示核型为46,XY,der(10)del(10)(q26.3)dup(10)(p11.2p15)。她在妊娠21周时再次接受羊水穿刺术，阵列比较基因组杂交显示10号染色体p15.3-p11.22区域有31.65Mb的重复以及10号染色体q26.3区域有3.07Mb的缺失。产前超声检查结果无异常。她被转介进行遗传咨询，细胞遗传学分析显示父亲的核型为46,XY,inv(10)(p11.2q26.3)，母亲的核型为46,XX。随后终止妊娠，娩出的胎儿有明显的面部畸形。胎盘的产后细胞遗传学分析显示核型为46,XY,rec(10)dup(10p)inv(10)(p11.2q26.3)。荧光原位杂交分析显示重组10号染色体上10p末端重复和10q末端缺失。脐血和脐带的阵列比较基因组杂交分析证实了产前诊断。
结论
因高龄产妇进行重组染色体的产前诊断应警惕父源性臂间倒位的可能性。
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