Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

Role of vitamin A in the haematotoxicity of hexachlorocyclohexane (HCH) in the rat.

The haematotoxicity of technical hexachlorocyclohexane (HCH) (1000 ppm) was investigated in male albino rats fed with diet free of vitamin A or containing vitamin A at 2000 or 10(5) I.U./kg. Assessment of HCH-induced haematotoxicity at the end of the 7 weeks feeding period was done on the basis of haemoglobin content, total count of red blood cells and white blood cells and the differential counts of the white blood cells as well as by parameters such as packed cell volume, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin content, prothrombin time and clotting time. In the rats fed with vitamin A-free diet containing HCH, significant reductions were noticed in the total white blood cells count, clotting time and prothrombin time indicating severe haematotoxicity. Differential count of the white blood cells of these rats revealed a non-significant reduction in the lymphocyte count. The only indication of haematotoxicity caused by hexachlorocyclohexane in the vitamin A supplemented rats was a slight but statistically significant reduction of the total count of white blood cells. These results demonstrate that the haematotoxicity of hexachlorocyclohexane in the rats is enhanced by vitamin A-deficiency and its supplementation particularly in excess but not at hypervitaminotic level is protective against the toxicity.     

Composition of Floating Debris in Harbours of the United States

As part of a programme to characterize floating anthropogenic debris in the aquatic environment, the US Environmental Protection Agency (EPA) conducted 18 field surveys in the harbours of major metropolitan cities of the east, west, and Gulf coasts of the United States and the Mid-Atlantic Bight. the surveys were designed to provide information on the types, relative amounts, and distributions of aquatic debris in different geographic regions of the United States. Neuston nets (0.33 mm mesh) were used to collect surface debris during outgoing tides on two or three consecutive days in selected areas of each city. After each net tow, the debris, which ranged in size from small resin pellets to large plastic sheeting pieces, was identified, categorized, and counted. the data are being used to qualitatively characterize aquatic debris in coastal metropolitan areas, to examine potential regional variations, and to tentatively identify potential sources.     

Postfledging Dispersal of White-crowned Pigeons: Implications for Conservation of Deciduous Seasonal Forests in the Florida Keys

From 1988 to 1991, we studied the postfledging dispersal of 31 radio-tagged White-crowned Pigeons ( Columba leucocephala ) from three natal keys in Florida Bay. Immature birds dispersed from the natal keys at 26–45 days after batching, and most young dispersed more than 20 km during the first 10 days postdispersal. Dispersing birds flew either north to the Florida mainland or east to northeast to the mainline Florida Keys. On the mainland, immature birds fed nearly exclusively within Everglades National Park or an adjacent state wildlife management area. On the mainline keys, White-crowned Pigeons selectively used 5.01–20 ha forest fragments (p < 0.10) during the first 72 hours postdispersal. After this period, dispersing birds showed no preference among fragment size classes but used deciduous seasonal forests more frequently than suburban habitat(p < 0.10). The spatial pattern of dispersal on the mainline keys suggests that, during the first 72 hours postdispersal. White-crowned Pigeons are not able to reach northern Key Largo, where 69% of the deciduous seasonal forests are protected in state or federal ownership. Protection of large forest fragments, especially on southern Key Largo, should be a priority for maintaining populations of White-crowned Pigeons. These forests provide a series of "stepping stones" that enable dispersing immature White-crowned Pigeons to fly to more distant areas where habitat availability is less restricted. This species is threatened in Florida and may play an important role in maintaining plant species diversity in the seasonal deciduous forests of south Florida by dispersing seeds of at least 37 species of trees and shrubs. Protection of sufficient habitat to allow successful postfledging dispersal of this important seed disperser will also protect the ecosystem's biodiversity.