Chen Chih-Ping, Ko Tsang-Ming, Chern Schu-Rern, Wu Peih-Shan, Chen Shin-Wen, Lai Shih-Ting, Yang Chien-Wen, 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.
Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2017 Aug;56(4):545-549. doi: 10.1016/j.tjog.2017.05.004.
We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16.
A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11.2-q22.1. Repeat amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+mar[10]/46,XY[31]. aCGH analysis of uncultured amniocytes revealed a result of arr 16q11.2q22.1 (46,492,626-68,867,969) × 2.20 with a log2 ratio of 0.15 encompassing RPGRIP1L, FTO, SLC6A2, BBS2 and CDH1. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes detected partial trisomy 16q in 36/137 (26.3%) of uncultured amniocytes. Polymorphic DNA marker analysis on amniocytes and parental bloods excluded uniparental disomy 16. Premature labor occurred at 25 weeks of gestation, and a 585-g male baby without craniofacial dysmorphism was delivered and survived. At age 1½ years, pediatric follow-ups revealed normal psychomotor development, normal body weight, short stature, congenital hypothyroidism, hearing impairment and hypospadias in the neonate, and the peripheral blood had a karyotype of 46,XY in 40 cultured lymphocytes.
aCGH, interphase FISH and polymorphic DNA marker analyses of uncultured amniocytes are useful for confirmation of prenatally detected mosaic sSMCs at amniocentesis.
我们报告了一条源自16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28岁女性因唐氏综合征母体血清筛查异常，于妊娠17周时接受了羊膜穿刺术。羊膜穿刺术显示核型为47,XY,+mar[5]/46,XY[9]。父母的核型正常。产前超声检查结果无异常。对培养的羊水细胞进行的阵列比较基因组杂交（aCGH）分析显示，16q11.2 - q22.1区域有16%的基因剂量从头增加。妊娠21周时再次进行羊膜穿刺术，显示核型为47,XY,+mar[10]/46,XY[31]。对未培养的羊水细胞进行的aCGH分析结果为arr 16q11.2q22.1 (46,492,626 - 68,867,969) × 2.20，log2比值为0.15，涵盖RPGRIP1L、FTO、SLC6A2、BBS2和CDH1。对未培养的羊水细胞进行的间期荧光原位杂交（FISH）分析在36/137（26.3%）的未培养羊水细胞中检测到16q部分三体。对羊水细胞和父母血液进行的多态性DNA标记分析排除了16号染色体单亲二体。妊娠25周时发生早产，分娩出一名体重585克的男婴，无颅面畸形，存活。在1岁半时，儿科随访显示新生儿精神运动发育正常、体重正常、身材矮小、先天性甲状腺功能减退、听力障碍和尿道下裂，40个培养淋巴细胞的外周血核型为46,XY。
对未培养的羊水细胞进行aCGH、间期FISH和多态性DNA标记分析，有助于在羊膜穿刺术时确认产前检测到的嵌合型sSMC。
Zotero 插件