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Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid. 相似文献
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Steffi Mayer Philipp Klaritsch Scott Petersen Elisa Done Inga Sandaite Holger Till Filip Claus Jan A. Deprest 《黑龙江环境通报》2011,31(11):1086-1096
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A. Ghosh L. Higgins S. A. Larkins C. Miller N. Ostojic W. L. Martin M. D. Kilby 《黑龙江环境通报》2008,28(11):1068-1071
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Alex M.-C. Wong Larissa T. Bilaniuk K.-K. Ng Y.-L. Chang A.-S. Chao MD Y.-Y. Wai 《黑龙江环境通报》2005,25(4):296-299
Holoprosencephaly is a congenital anomaly characterized by lack of cleavage of the prosencephalon. Although, relatively rare, it is the most common anomaly that involves both the brain and the face. Prenatal diagnosis of this anomaly using ultrasonography, particularly of the less severe forms, is difficult. Magnetic resonance imaging has recently become an important complement to US in prenatal diagnosis of CNS anomalies. We herein report a patient in whom, at 23 weeks of gestation, US suggested agenesis of the corpus callosum and in whom, at 24 weeks of gestation, MRI correctly diagnosed lobar holoprosencephaly, which was confirmed by a postnatal MRI at 3 weeks of age. Copyright © 2005 John Wiley & Sons, Ltd. 相似文献