Chen Chih-Ping, Chen Ming, Wang Pu-Tsui, Chern Schu-Rern, Chen Shin-Wen, Lai Shih-Ting, Wu Peih-Shan, Chang Shun-Ping, Pan Chen-Wen, Wang Wayseen
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, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
Taiwan J Obstet Gynecol. 2017 Jun;56(3):394-397. doi: 10.1016/j.tjog.2017.04.025.
We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11.
A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance. The sSMC was characterized by spectral karyotyping (SKY) using 24-color SKY probes and fluorescence in situ hybridization (FISH) using a whole chromosome paint (wcp) probe and a CEP11 (D11Z1) probe. The result was 47,XX,+mar.ish(11)(SKY+, wcp11+, D11Z1+)[16]/46,XX[4], indicating that the sSMC was derived from chromosome 11. A healthy female baby was delivered at 37 weeks of gestation with no phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[32]/46,XX[8]. Polymorphic DNA marker analysis of the blood excluded uniparental disomy 11. The female infant was normal in growth and psychomotor development during follow-ups at two months of age.
aCGH, SKY and FISH are useful in prenatal diagnosis of an sSMC derived from the centromeric region of a non-acrocentric chromosome.
我们报告一例源自11号染色体的小额外标记染色体（sSMC）的产前诊断及分子细胞遗传学特征。
一名37岁、孕3产2的女性因高龄产妇在妊娠17周时接受了羊水穿刺术。羊水穿刺术显示核型为47,XX,+mar[18]/46,XX[4]。父母的核型正常。二级超声检查结果无异常。对从培养的羊水细胞中提取的DNA进行的阵列比较基因组杂交（aCGH）显示无基因组失衡。使用24色SKY探针通过光谱核型分析（SKY）以及使用全染色体涂染（wcp）探针和CEP11（D11Z1）探针通过荧光原位杂交（FISH）对sSMC进行特征分析。结果为47,XX,+mar.ish(11)(SKY+, wcp11+, D11Z1+)[16]/46,XX[4]，表明该sSMC源自11号染色体。一名健康女婴在妊娠37周时出生，无表型异常。脐带血的核型为47,XX,+mar[32]/46,XX[8]。对血液进行的多态性DNA标记分析排除了11号染色体单亲二体。该女婴在两个月大的随访期间生长和精神运动发育正常。
aCGH、SKY和FISH在产前诊断源自非近端着丝粒染色体着丝粒区域的sSMC方面很有用。
