Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

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.     

Performances of mesophilic anaerobic digestion systems treating poultry mortalities

Abstract

A closed‐loop anaerobic digestion system consisting of a leachbed (LB) and an upflow anaerobic sludge blanket (UASB) was tested as an alternative for the disposal of poultry mortalities. This paper compares the performances of three LB‐UASB treatment systems with different initial moisture contents in the LBs. Each LB was loaded with one chicken and 5, 10 or 18 liters of water. The LBs initially carried out the hydrolysis/acidification phase while the UASBs the methanogenesis phase. Due to repeated inoculation by the UASBs, the LBs with 10 and 18 liters of water started producing methane on day 5, while the one with 5 liters of water on day 19. However, methane production rates were low before day 40 for the LB with 10 liters of water and day 60 for the other LBs. Methane production gradually improved as the LBs continued to receive ungranulated sludge from the UASBs. The LBs eventually became balanced methane reactors. Continued balanced fermentation in the LBs resulted in leachates with very low substrate concentrations that could no longer support high‐rate methanogenesis in the UASBs. Consequently, methane production rates from the UASBs decreased quickly while that from the LBs reached peak levels. Cumulative methane production from each LB eventually exceeded that from its connecting UASB. After 118 days of digestion, 414, 437 and 470 liters of methane were produced from the three systems, respectively. Cumulative methane production from the LBs with 5 and 18 liters of water accounted for 63% of the total methane produced from their respective systems. The LB with 10 liters of water produced 75% of the total methane from that system. Methane yields ranged from 0.485 to 0.554 m³ (Kg TS) ¹. About 86% of the initial dry weight was biodegraded. All three systems performed very well with little operational problems. Overall, the system that started with 10 liters of water in the LB performed the best. Strategy for enhancing system performances and implementing farm applications are discussed.