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http://ir.cmu.edu.tw/ir/handle/310903500/29957
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| 題名: | Interleukin 4, interleukin 6 and interleukin 10 polymorphisms in children with acute and chronic immune thrombocytopenic purpura |
| 作者: | Wu, KH;Peng, CT;Li, TC;Wan, L;Tsai, CH;Lan, SJ;Chang, MC;Tsai, FJ |
| 貢獻者: | 附設醫院基因醫學部;China Med Univ Hosp, Dept Med Genet, Taichung 404, Taiwan;China Med Univ Hosp, Dept Paediat, Taichung 404, Taiwan;China Med Univ Hosp, Inst Chinese Med, Taichung 404, Taiwan;Univ Taichung, Taichung Healthcare & Management, Taichung, Taiwan |
| 日期: | 2005 |
| 上傳時間: | 2010-09-24 14:46:31 (UTC+8) |
| 出版者: | BLACKWELL PUBLISHING LTD |
| 摘要: | Objectives To present the perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q and partial monosomy 20q and a review of the literature. Case and Methods Obstetric ultrasound at 33 weeks' gestation revealed intrauterine growth restriction (IUGR) and dolichocephaly in a 27-year-old primigravid woman. Prenatal cytogenetic diagnosis was not offered because of the late stage of gestation. A 2800-g male baby was delivered at 41 weeks' gestation by cesarean section because of fetal distress. The infant postnatally presented characteristic craniofacial dysmorphism, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. Cytogenetic analysis revealed an additional material attached to the terminal region of chromosome 20q. The parental karyotypes were normal. Spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and polymorphic DNA markers were used to investigate the origin of the de novo aberrant. chromosome. Results SKY using 24-color probes, FISH using specific 16p, 16q, 20 centromeric, and 20q telomeric probes, and polymorphic DNA marker analysis confirmed maternal origin of the duplication of distal 16q and the deletion of terminal 20q. Karyotype of the proband was designated as 46,XY.ish der(20)t(16;20)(q22.1;q13.3)(SKY+,16qTEL+,20qTEL-). Conclusions Partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter) may be associated with the perinatal findings of IUGR, dolichocephaly, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. SKY, FISH, and genetic marker studies help in delineating the parental origin and the regions of the deletion and duplication in the de novo unbalanced translocation. Copyright (C) 2005 John Wiley Sons, Ltd. |
| 關聯: | BRITISH JOURNAL OF HAEMATOLOGY 128(6):849-852 |
| 顯示於類別: | [台中附設醫院] 期刊論文
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