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311.
Lee P. Shulman MD Patricia L. Gordon Donald S. Emerson R. Sidney Wilroy Sherman Elias 《黑龙江环境通报》1993,13(5):403-409
We describe the prenatal diagnosis of isolated bilateral fetal microphthalmia in a woman at increased risk of having a fetus with microphthalmia. Ultrasound examinations at 161 and 19-5 weeks' gestation demonstrated bilateral fetal microphthalmia with no other associated structural defects. The patient elected to terminate her pregnancy at 19.5 weeks. Pathological evaluation of the products of conception obtained by dilation and evacuation confirmed the prenatal diagnosis of isolated bilateral fetal microphthalmia. 相似文献
312.
Stanislav N. Gorb 《Die Naturwissenschaften》1999,86(11):552-555
Two main types of joints occur in the damselfly wing: mobile and immobile. Some longitudinal veins (RP2–, RP3&4–, and MP–) are elastically joined with cross veins, whereas other longitudinal veins (IR1+, IR2+, MA+, CuA'+) are firmly joined with cross veins. In this study we mapped the distribution of serial elastic elements in the wing. The
occurrence of resilin, a rubberlike protein, in mobile joints suggests that the automatic twisting mechanism of the leading
edge by aerodynamic force works not by flexibility but by the elasticity of these joints. First, it should result in elastic
energy storage in the distal areas of the wing. Second, serial elastic elements of wing presumably act as dampers of an aerodynamic
force, which are responsible for gradual twisting of the leading edge.
Received: 16 March 1999 / Accepted in revised form: 26 August 1999 相似文献
313.
While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth. 相似文献
314.
Prenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6-5 years revealed normal physical and intellectual development in both children. 相似文献
315.
Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy. 相似文献
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