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51.
52.
J. Heinze H. Remmert F. L. Boschke D. Reinen L. Jaenicke 《Die Naturwissenschaften》1983,70(11):575-576
53.
Mary C. Phelan Ph.D. Robert A. Saul Thompson A. Gailey Jr Steven A. Skinner 《黑龙江环境通报》1995,15(3):274-277
Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21. 相似文献
54.
Ariel Weissman Reuwen Achiron M.D. Jacob Kuint Shlomo Lipitz Shlomo Mashiach Itamar Avigad 《黑龙江环境通报》1994,14(9):888-891
A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented. 相似文献
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Prenatal real-time ultrasonographic diagnosis of microphthalmia is presented. Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (Fraser syndrome). Recognition of microphthalmia as a part of Fraser syndrome and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible. 相似文献
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Cynthia J. Sims MD Don T. Fujito Dennis R. Burholt Josef Dadok Harlan R. Giles D. Allan Wilkinson 《黑龙江环境通报》1993,13(6):473-480
We have investigated the ability of high-resolution proton NMR spectroscopy to provide a biochemical constituent screening of human amniotic fluid (AF). Proton NMR spectra were obtained at 300 MHz on AF from patients undergoing amniocentesis in the mid-trimester. Only AF from normal pregnancies (normal fetal karyotype, normal a-fetoprotein levels, normal birth outcome) was used in this study. The AF supernatant was lyophilized and resuspended in deuterated water containing 0.1 mm phosphate buffer and 6.02 mm disodium maleate. Identification of low molecular weight compounds was confirmed by two-dimensional NMR spectra (primarily correlated spectroscopy, or COSY) and standard addition techniques. A broad profile of compounds were ‘NMR visible’ in a single proton spectrum, including creatinine, glucose, organic acids (acetate, citrate, and lactate) and several amino acids (alanine, histidine, leucine, phenylalanine, tyrosine and valine). The proton spectrum was unaffected by prior freezing/thawing of AF samples. We were able to quantify compounds by comparison with an added concentration standard (maleate) at concentrations as low as 30 μm. Good agreement with literature values based on other analytical techniques was obtained. 相似文献
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