FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16.

We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.

Bilateral ulnar agenesis: case report and review of the literature.

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann-de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann-de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.

Human fetal somatic and visceral morphometrics.

Because of the increasing prenatal use of high-resolution ultrasonography to assess fetal growth and because growth aberration is one of the principal manifestations of abnormal intrauterine development, a more precise definition of normal growth is desirable. Our data set from autopsies of fetuses/neonates (50-4,000 g), collected with systematic attention to precision of measurement, is analyzed and presented. Previous computations of fetal growth curves appear to overstate the variation about the mean. Through the identification and exclusion of outliers and the use of appropriate curve fitting techniques, the problem of overestimation of variation about the mean has been largely eliminated. The new growth standards we present can be used to assess aberration from proportional growth and correlate it with gestational circumstances and particular morphological features of the fetus.

Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature.

Lethal perinatal osteogenesis imperfecta (OI Type II) is a biochemically diverse collagen disorder characterized by short, crumpled long bones, beaded ribs, blue sclerae and thin, fragile skin. Cardiovascular abnormalities are rarely described. Using morphometry and light and electron (SEM and TEM) microscopy, we analyzed the hearts and great vessels from 2 fetuses with OI Type IIA and compared the findings with age-matched controls. The heart weights and atrioventricular valve (AVV) circumferences were reduced in OI. The chordae tendineae were short and fragile; both the AVVs and the chordae tendineae were hypercellular. TEM showed relatively little organized collagen in the chordae tendineae of OI fetuses. Furthermore, quantitative evaluation of collagen fibril size revealed a decrease in the cross-sectional diameter. There was also a marked decrease in the adventitial and intramural collagen of the intramyocardial arteries and great vessels in OI. Our study reports, for the first time, specific lesions in the cardiovascular systems of patients with OI Type II and reviews the cardiovascular pathology in other forms of OI.

Toxicity of Aroclor-R 1254 and its physiological activity in several estuarine organisms.

The occurrence of high concentrations of a PCB (Aroclor 1254) in the Pensacola estuary prompted field and laboratory studies by the Gulf Breeze Environmental Research Laboratory (EPA). Monitoring of the estuary indicates the chemical is present in all components--particularly in sediments and fishes. Residues appear to be diminishing in sediments. Toxicity tests show estuarine species sensitive at ppb concentrations in water, with a ciliate protozoan (Tetrahymena pyriformis W), (Fundulus similis), affected at or near 1.0 ppb. Tissue concentrations of Aroclor 1254 similar to those found in natural populations of shrimps from the contaminated estuary were successfully duplicated in laboratory experiments. Shrimps also concentrated the PCB from very low concentrations (0.04 ppb) in the water. Three estuarine species demonstrated pathologic changes at tissue and cellular level after chronic exposure to the chemical. Oysters (Crassostrea virginica) developed abnormal infiltration of leukocytes in the connective tissue, spot (Leiostomus xanthurus) developed fatty changes in their livers, and shrimp (Penaeus duorarum) developed crystalloids in hepatopancreatic nuclei.