نتایج جستجو برای: trisomy 18
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Ectrodactyly of the feet has been reported only twice in association with trisomy 18 syndrome. A severe form of this anomaly, the first with published illustrative x rays, is described in a male infant with trisomy 18 syndrome. It is suggested that this may represent an extreme expression of the foot anomalies more commonly associated with this syndrome.
BACKGROUND Noninvasive prenatal diagnosis of fetal aneuploidy by maternal plasma analysis is challenging owing to the low fractional and absolute concentrations of fetal DNA in maternal plasma. Previously, we demonstrated for the first time that fetal DNA in maternal plasma could be specifically targeted by epigenetic (DNA methylation) signatures in the placenta. By comparing one such methylate...
2 profoundly retarded children with extra No. 18 chromosomes were conditioned to emit operant eyeblinks in conformity with continuous and extinction schedules of reinforcement. Conditioning with each child was undertaken at normal feeding times, and when spoonfuls of food were made contingent upon blinking, blink rates increased. On interpolated and final sessions when food was given independen...
The simultaneous occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. Most of the previously reported cases of double trisomy were found in spontaneous abortions. We report on a male newborn presenting with typical clinical features of Edwards syndrome (trisomy 18), resulting from de novo, non-mosaic 18 trisomy with an additional X in the karyotype: 48, XXY, +...
OBJECTIVE The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement. MATERIAL AND METHODS The study involved 1751 singleton pregnancies at 11-13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, an...
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