MOSAIC RING CHROMOSOME 18, RING CHROMOSOME 18 DUPLICATION/DELETION AND DISOMY 18: PERINATAL FINDINGS AND MOLECULAR CYTOGENETIC CHARACTERIZATION BY FLUORESCENCE IN SITU HYBRIDIZATION AND ARRAY COMPARATIVE GENOMIC HYBRIDIZATION
MOSAIC RING CHROMOSOME 18, RING CHROMOSOME 18 DUPLICATION/DELETION AND DISOMY 18: PERINATAL FINDINGS AND MOLECULAR CYTOGENETIC CHARACTERIZATION BY FLUORESCENCE IN SITU HYBRIDIZATION AND ARRAY COMPARATIVE GENOMIC HYBRIDIZATION
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DOI：
10.1016/s1028-4559(10)60069-1
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发表时间：
2010-09-01
影响因子：
2.1
通讯作者：
Wang, Wayseen
中科院分区：
文献类型：
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作者：
Chen, Chih-Ping;Kuo, Yung-Ting;Wang, Wayseen
摘要目的介绍1例罕见的18号染色体结构和数量异常的围生期染色体异常的分子细胞遗传学分析。资料、方法和结果1例36岁孕妇，妊娠5期，第3期，因高龄行羊膜穿刺术，羊膜穿刺术显示核型为46 XY，r(18) [27]/45，XY。18[51/46，XY]父母决定继续妊娠II级超声显示心室肿大妊娠38周时，出生了一个3725 g的男婴，胎儿有小头畸形、远端肥大、表皮褶皱、腭裂、宽扁鼻、类人猿褶皱、宽手、细手指、畸形足、小阴茎、骶窝、低压、心室肿大和室间隔缺损。外周血淋巴细胞核型为46XY，r(18)[81]/45，XY。利用18号染色体着丝粒探针（cep18）和亚端粒（18pter, 18qter）进行荧光原位杂交，鉴定出r（18）、idic r（18）、单体18、和二体性18阵列比较基因组杂交分析血液演示了一个14 9 Mb删除染色体18 p (arr cgh 18侯32侯21 (0 - 14941330)x 1]和29日6 Mb在18号染色体缺失问[arr cgh 18温度系数2 q23处(46533430 - 76117153)x 11渊源者的核型是46,XY, r(18)(侯21温度系数2)[81]/ 45,XY, 18 [3] / 46, XY, idic r(18)(侯21温度系数2,侯21温度系数2)[3]/ 46,XY[13]阵列比较基因组杂交是有用的结论来确定环色一些的断点,特别是在环状染色体包含大部分嵌合体的情况下[台湾妇产科杂志，2010,49(3):327-332]
Objective To present the perinatal findings and molecular cytogenetic analysis of a rare chromosomal abnormality involving structural and numerical abnormalities of chromosome 18Materials, Methods and Results A 36 year old woman, gravida 5, para 3, underwent amniocentesis because of her advanced maternal age Amniocentesis revealed a karyotype of 46 XY,r(18) [27]/45,XY, 18[51/46,XY[5] The parents decided to continue the pregnancy Level II ultrasound revealed ventriculomegaly At 38 weeks of gestation, a 3,725 g male fetus was delivered The fetus had microcephaly, hypertelorism, epicanthal folds, cleft palate, a broad flat nose, simian creases, broad hands, tapered fingers, clubfeet, micropenis, a sacral dimple, hypotonia, ventriculomegaly, and a ventricular septal defect The peripheral blood lymphocytes revealed a karyotype of 46XY,r(18)[81]/45,XY, 18[3]/46,XY,idic r(18)[3]/46,XY[13] Fluorescence in situ hybridization using chromosome 18 centromeric probe (cep18) and subtelomeric (18pter, 18qter) identified four types of cells, r(18), idic r(18), monosomy 18, and disomy 18 Array comparative genomic hybridization analysis of the blood demonstrated a 14 9 Mb deletion at chromosome 18p [arr cgh 18p11 32p11 21 (0-14,941,330)x 1] and a 29 6 Mb deletion at chromosome 18q [arr cgh 18q21 2q23 (46,533,430-76,117,153) x 11 The proband's karyotype was 46,XY,r(18)(p11 21q21 2)[81]/45,XY, 18[3]/46,XY,idic r(18)(p11 21q21 2,p11 21q21 2)[3]/46,XY[13]Conclusion Array comparative genomic hybridization is useful to determine the breakpoints of a ring chromo some, particularly in cases where the ring chromosome comprises the majority of the mosaicism [Taiwan J Obstet Gynecol 2010,49(3) 327-332]