一条呈现为与inv dup(15)综合征相关的小额外标记染色体的inv dup(15)染色体的分子细胞遗传学特征。
Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome.
作者信息
Chen Chih-Ping, Lin Shuan-Pei, Chern Schu-Rern, Wu Peih-Shan, Chen Yen-Ni, Chen Shin-Wen, Lee Chen-Chi, Town Dai-Dyi, 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.
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2016 Oct;55(5):728-732. doi: 10.1016/j.tjog.2016.06.017.
OBJECTIVE
To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome.
CASE REPORT
A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15. Prenatal ultrasound findings were unremarkable. A 3434-g male baby was delivered at term with no phenotypic abnormalities. The cord blood analysis revealed a bisatellited dicentric inv dup(15). When followed up at 21 years of age, the proband manifested hypotonia, ataxic gait, developmental delay, intellectual disability, epilepsy, poor speech, and autism consistent with the inv dup(15) syndrome. Array comparative genomic hybridization of the peripheral blood revealed arr 15q11.1q13.2 (20,686,219-30,390,043) × 4, 15q13.2q13.3 (30,390,043-32,445,226) × 3. Conventional cytogenetic analysis of the peripheral blood revealed a karyotype of 47,XY,+inv dup(15)(pter→q13::q13→pter). Quantitative fluorescent polymerase chain reaction analysis showed a maternal origin of the inv dup(15) chromosome. FISH analysis confirmed an inv dup(15) chromosome.
CONCLUSION
Molecular cytogenetic techniques are useful for rapid diagnosis of an inv dup(15) chromosome associated with the inv dup(15) syndrome.
目的
呈现近端15号染色体倒位重复[inv dup(15)]的分子细胞遗传学特征，该倒位重复表现为与inv dup(15)综合征相关的小额外标记染色体(sSMC)。
病例报告
一名35岁女性因孕27周时母亲年龄偏大接受了羊膜穿刺术，结果显示存在一个sSMC，经荧光原位杂交(FISH)证实源自15号染色体。产前超声检查结果无异常。一名体重3434克的男婴足月分娩，无表型异常。脐血分析显示为双着丝粒双卫星inv dup(15)。在21岁随访时，先证者表现出肌张力低下、共济失调步态、发育迟缓、智力残疾、癫痫、语言能力差和自闭症，符合inv dup(15)综合征。外周血的阵列比较基因组杂交显示arr 15q11.1q13.2(20,686,219 - 30,390,043)×4，15q13.2q13.3(30,390,043 - 32,445,226)×3。外周血的常规细胞遗传学分析显示核型为47,XY,+inv dup(15)(pter→q13::q13→pter)。定量荧光聚合酶链反应分析显示inv dup(15)染色体源自母亲。FISH分析证实了inv dup(15)染色体。
结论
分子细胞遗传学技术有助于快速诊断与inv dup(15)综合征相关的inv dup(15)染色体。
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