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Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.  相似文献   
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Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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The haematotoxicity of technical hexachlorocyclohexane (HCH) (1000 ppm) was investigated in male albino rats fed with diet free of vitamin A or containing vitamin A at 2000 or 10(5) I.U./kg. Assessment of HCH-induced haematotoxicity at the end of the 7 weeks feeding period was done on the basis of haemoglobin content, total count of red blood cells and white blood cells and the differential counts of the white blood cells as well as by parameters such as packed cell volume, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin content, prothrombin time and clotting time. In the rats fed with vitamin A-free diet containing HCH, significant reductions were noticed in the total white blood cells count, clotting time and prothrombin time indicating severe haematotoxicity. Differential count of the white blood cells of these rats revealed a non-significant reduction in the lymphocyte count. The only indication of haematotoxicity caused by hexachlorocyclohexane in the vitamin A supplemented rats was a slight but statistically significant reduction of the total count of white blood cells. These results demonstrate that the haematotoxicity of hexachlorocyclohexane in the rats is enhanced by vitamin A-deficiency and its supplementation particularly in excess but not at hypervitaminotic level is protective against the toxicity.  相似文献   
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Reproductive cycle, asexual reproduction, and population dynamics of the fissiparous brittle star, Ophiactis savignyi, which inhabits the exhalant passages of the sponge Haliclona sp. were examined monthly from February 1991 to January 1992 at Wanlitung, southern Taiwan (22°N; 120°E). Mature gametes were found from March to December, but release was mainly in May and June. Sexual recruits were found from May to December, with the highest frequency (14.1% of population) in June. Sexual recruits composed 2.4% of the 1-yr sample. Sex ratio of male to female was 24:1. Fission occurred throughout the year, although the frequency of recently split individuals was lower from January to June (6 to 31%), and higher from July to December (42 to 52%). The occurrence of fission was highest after spawning. Regenerating individuals composed 48.2% of the 1-yr sample. Population density fluctuated greatly during summer due to recruitment by fission and mortality or dispersal due to the stressful environmental conditions. Both sexual and asexual reproduction of O. savignyi were successful at this site.  相似文献   
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Critics of the Endangered Species Act have asserted that is protects an inordinate number of subspecies and populations, in addition to full species, and that the scientific rationale for listing decisions is absent or weak. We reviewed all U.S. plants and animals proposed for listing or added to the endangered species list from 1985 through 1991 to determine the relative proportion of species, subspecies, and populations, and their rarity at time of listing. Approximately 80% of the taxa added to the list were full species, 18% were subspecies, and 2% were distinct populations segments of more widespread vertebrate species. The proportion of subspecies and populations was considerably higher among birds and mammals than among other groups. The median populations size at time of listing for vertebrate animals was 1075 individuals; for invertebrate animals it was 999. The median population size of a plant at time of listing was less than 120 individuals. Earlier listing of declining species could significantly improve the likelihood of successful recovery, and it would provide land managers and private citizens with more options for protecting vanishing plants and animals at less social or economic cost.  相似文献   
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