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排序方式: 共有205条查询结果,搜索用时 15 毫秒
1.
Chih-Ping Chen Schu-Rern Chern Wayseen Wang Chen-Chi Lee Wen-Lin Chen Li-Feng Chen Tung-Yao Chang Chin-Yuan Tzen 《黑龙江环境通报》2001,21(5):346-350
A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
2.
Ingrid Witters Hans Van Bokhoven A. Goossens Frans-André Van Assche Jean-Pierre Fryns 《黑龙江环境通报》2001,21(13):1119-1122
We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
3.
5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献
4.
5.
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
6.
混合培养微生物好氧降解对硝基苯胺的特性研究 总被引:8,自引:0,他引:8
通过富集培养 ,获得了降解对硝基苯胺的混合培养微生物。结果表明 ,对硝基苯胺降解速度和混合培养微生物生长对外加碳源有较强的依赖性。在培养液中添加 1 0g L葡萄糖和 1 0g L酵母粉 ,36h内对硝基苯胺去除率可达97%以上 ,对硝基苯胺降解速率可达 4 1mg L·h ;当对硝基苯胺作为培养液生长的唯一碳源、氮源和能源时 ,96h内对硝基苯胺去除率为 34 8% ,降解速率为 0 15mg L·h。 相似文献
7.
Frans J. Los MD PhD Diane Van Opstal Martin P. Schol Johannes L. J. Gaillard Helen Brandenburg Ans M. W. Van Den Ouweland Peter A. In 'T Veld 《黑龙江环境通报》1995,15(12):1155-1159
A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome. 相似文献
8.
Dr. Linda A. Cannizzaro Barbara K. Hecht Helen A. Bixenman Stephen Pazdziorko Robert Tamis Frederick Hecht 《黑龙江环境通报》1988,8(4):297-301
We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features. 相似文献
9.
The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed. 相似文献
10.