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31.
Young-Mi Kim Eun-Hee Cho Jin-Mi Kim Moon-Hee Lee So-Yeon Park Hyun-Mee Ryu 《黑龙江环境通报》2004,24(3):161-164
We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
32.
Prenatal diagnosis of 5p deletion syndrome, or cri du chat, following an abnormally low measurement of a screening of serum human chorionic gonadotrophin (hCG), is reported. Karyotyping following amniocentesis revealed a terminal deletion in the short arm of one chromosome 5. The pregnancy was electively terminated. 5p deletion syndrome has been described with abnormally high hCG levels and normal hCG levels. This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
33.
S. Cavani C. Perfumo F. Faravelli M. Malacarne M. Sogliani G. Piombo G. Zerega M. Zucca F. Dagna Bricarelli M. Pierluigi 《黑龙江环境通报》2003,23(10):819-823
Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3–pter monosomy and 6q25.2–qter trisomy. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
34.
Prenatal diagnosis of monosomy 4p14→pter and trisomy 11q25→qter: clinical presentations and outcomes
Hsiu-Huei Peng Tzu-Hao Wang An-Shine Chao Yao-Lung Chang Shuenn-Dyh Chang Yung-Kuei Soong 《黑龙江环境通报》2005,25(12):1133-1137
We present the case of a pregnant woman with low free β-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth restriction, cleft lip and palate, a thick nuchal fold, a single umbilical artery, and pyelectasis. Array-based comparative genomic hybridization and short tandem repeat markers further located the exact breakpoint of translocation. The woman had her pregnancy terminated at 23 weeks of gestational age. The proband had general appearance of Wolf–Hirschhorn syndrome and some unique findings, including single umbilical artery, severe immunoglobulin deficiency, scalp defect, and underlying bony defect. Our case underscores the importance of fetal karyotyping when low maternal serum free β-HCG is found. It also adds information on the fetal presentations of monosomy 4p14→pter and trisomy 11q25→qter. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
35.
We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
36.
37.
D. Molina-Gomes V. Nebout F. Daikha-Dahmane F. Vialard Y. Ville J. Selva 《黑龙江环境通报》2006,26(3):239-241
We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
38.
E. Pipiras C. Dupont S. Chantot-Bastaraud J. P. Siffroi M. Bucourt A. Batallan C. Largillière M. Uzan J. P. Wolf B. Benzacken 《黑龙江环境通报》2004,24(2):101-103
True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
39.
40.
刘铁民 《中国安全生产科学技术》2012,8(8):5-12
首先分析了我国《安全生产法》的发展沿革,且认真学习了目前发布的《安全生产法》征求意见稿,归纳了征求意见稿还应实现四个重点突破:必须体现以人为本的执政理念;职业危害防治应列为《安全生产法》的重要条款之一;安全生产执法监察应与公共安全及行政管理分离;应对工伤保险预防机制作出明确要求。此外,建议通过《安全生产法》的进一步修订实现我国安全生产的制度化建设:建议逐步建立安全生产分级监察管理体制;推进风险管理制度,对企业实行风险分级与分级监管;逐步提出建立安全生产监察员专业化制度;建立与国际接轨的生产安全事故统计报告系统;强化城市建设土地使用规划的风险管理和安全许可;生产安全事故应急管理应强化应急准备工作;建立独立生产安全事故调查机构和公开公正调查程序;应在《安全生产法》中明确"安全生产委员会"的组织形式和功能;生产安全事故责任追究应与激励政策相结合。 相似文献