Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd.     

Prenatally detected double trisomy: Klinefelter and Down syndrome

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

Food remains in Confuciusornis sanctus suggest a fish diet

Despite hundreds of excellent fossils of Confuciusornis, the most abundant group of birds in the Early Cretaceous, ‘Jehol Biota’ in China, there is yet no indication of the food choice of these birds. Here, we describe fish remains preserved in the alimentary system of a specimen of Confuciusornis sanctus from the Jiufotang Formation. This find is about five million years younger than all previously published confuciusornithid birds from the Yixian Formation. Although it is unknown how common fish was in the diet of Confuciusornis, the find does not support previous hypotheses that it fed on plants or grain.     

Effects of sampling error and temporal correlations in population growth on process variance estimators

Estimates of a population’s growth rate and process variance from time-series data are often used to calculate risk metrics such as the probability of quasi-extinction, but temporal correlations in the data from sampling error, intrinsic population factors, or environmental conditions can bias process variance estimators and detrimentally affect risk predictions. It has been claimed (McNamara and Harding, Ecol Lett 7:16–20, 2004) that estimates of the long-term variance that incorporate observed temporal correlations in population growth are unaffected by sampling error; however, no estimation procedures were proposed for time-series data. We develop a suite of such long-term variance estimators, and use simulated data with temporally autocorrelated population growth and sampling error to evaluate their performance. In some cases, we get nearly unbiased long-term variance estimates despite ignoring sampling error, but the utility of these estimators is questionable because of large estimation uncertainty and difficulties in estimating correlation structure in practice. Process variance estimators that ignored temporal correlations generally gave more precise estimates of the variability in population growth and of the probability of quasi-extinction. We also found that the estimation of probability of quasi-extinction was greatly improved when quasi-extinction thresholds were set relatively close to population levels. Because of precision concerns, we recommend using simple models for risk estimates despite potential biases, and limiting inference to quantifying relative risk; e.g., changes in risk over time for a single population or comparative risk among populations.