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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16484

    Title: 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
    Authors: 陳持平;Chen, Chih-Ping;Guo, Yung-Ting;Lin, Shuan-Pei;Su, Yi-Ning;Chen, Yann-Jang;Hseuh, Rui-Yuan;Lin, Yi-Hui;Wu, Pei-Chen;Lee, Chen-Chi;Chen, Yu-Ting;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: array comparative genomic hybridization;fluorescence in situ hybridization;mosaic ring chromosome;prenatal diagnosis;ring chromosome 18 duplication/deletion
    Date: 2010-09
    Issue Date: 2012-11-23 17:13:42 (UTC+8)
    Abstract: "To present the perinatal findings and molecular cytogenetic analysis of a rare chromosomal abnormality involving structural and numerical abnormalities of chromosome 18.

    Materials, 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[5]/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 46,XY,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)× 1] and a 29.6-Mb deletion at chromosome 18q [arr cgh 18q21.2q23 (46,533,430-76,117,153) × 1]. 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]."
    Relation: Taiwanese Journal of Obstetrics & Gynecology
    Appears in Collections:[生物科技學系] 期刊論文

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