与无明显表型异常相关的17q12微重复家族性遗传的产前诊断。
Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
作者信息
Chen Chih-Ping, Fu Chung-Hu, Lin Yi-Hui, Chern Schu-Rern, Wu Peih-Shan, Chen Yen-Ni, Chen Shin-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.
Hungchi Women and Children's Hospital, Chungli, Taoyuan, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2016 Dec;55(6):871-873. doi: 10.1016/j.tjog.2016.08.004.
OBJECTIVE
We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality.
CASE REPORT
A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B. Array comparative genomic hybridization analysis of parental bloods revealed no genomic imbalance in the mother, and a result of arr 17q12 (34,611,377-36,248,889) × 2.9 encompassing 16 OMIM genes, including LHX1, ACACA, and HNF1B, in the 29-year-old phenotypically normal father. Prenatal ultrasound findings were unremarkable. The parents elected to continue the pregnancy. At 37 weeks of gestation, a 2789-g normal male baby was delivered uneventfully. When examined at the age of 7 months, the neonate was as phenotypically normal as his father.
CONCLUSION
The 17q12 microduplication may present with variable phenotypes including no apparent phenotypic abnormality in familial cases. However, neuropsychiatry assessment and monitoring should be warranted in childhood and through adulthood under such a circumstance.
目的
我们报告了与无明显表型异常相关的17q12重复的家族性传播的产前诊断。
病例报告
一名36岁女性因母亲年龄较大，在妊娠17周时接受了羊膜穿刺术。细胞遗传学分析显示核型为46,XY。未培养羊水细胞的阵列比较基因组杂交显示17q12存在1.42 Mb的重复，即arr 17q12（34,822,465 - 36,243,365）×3，包含12个在线人类孟德尔遗传（OMIM）基因，包括LHX1、ACACA和HNF1B。对父母血液进行的阵列比较基因组杂交分析显示，母亲没有基因组失衡，29岁表型正常的父亲的检测结果为arr 17q12（34,611,377 - 36,248,889）×2.9，包含16个OMIM基因，包括LHX1、ACACA和HNF1B。产前超声检查结果无异常。父母选择继续妊娠。妊娠37周时，顺利产下一名体重2789 g的正常男婴。该新生儿在7个月大时接受检查，其表型与父亲一样正常。
结论
17q12微重复可能表现出多种表型，包括家族性病例中无明显表型异常。然而，在这种情况下，儿童期及成年期均应进行神经精神评估和监测。
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