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At least 1,189 records · Page 66Linked to original sources
PubMed2000

Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.

We describe the case of a 13-year-old girl with an apparently de novo unbalanced translocation resulting in the presence of additional chromosomal material on the short arm of one X chromosome, which was detected by conventional G-banding studies. Fluorescence in situ hybridization (FISH) using the Chromoprobe Multiprobe-M protocol confirmed that the additional chromosomal material originated from chromosome 5. The karyotype of this patient is now established to be 46,X,der(X) t(X;5)(p22.3;q33), with a deletion of Xp22.3-pter and partial trisomy of 5q33-qter. The distal 5q trisomy genotype has been associated with clinical signs that include growth and mental retardation, eczema, craniofacial anomalies, and malformations of heart, lungs, abdomen, limbs, and genitalia. Our patient also has short stature, a prominent nasal bridge, a flat philtrum, a thin upper lip, dental caries, and limb and cardiac malformations, but she appears to be mildly affected compared with previously reported cases. This is the first case of distal 5q trisomy arising from a translocation with the X chromosome. Replication studies on this patient show that the derivative t(X;5) chromosome is late replicating in almost all cells examined, which indicates that this chromosome is preferentially inactivated. However, the translocated segment of chromosome 5 appears to be early replicating, which implies that the trisomic 5q segment is transcriptionally active. We cannot determine from these studies whether all or only some genes in this segment are expressed, but this patient's relatively mild clinical signs suggest that the critical region(s) that contribute to the distal 5q trisomy phenotype are at least partly suppressed. A review of other patients with X-chromosome translocations indicates that many but not all of them also have attenuated phenotypes. The mechanism of inactivation of autosomal material attached to the X chromosome is complex, with varying effects on the phenotype of the patients that depend on the nature of the autosomal chromatin. Replication studies are of limited utility in predicting expression of autosomal genes involved in X-chromosome translocations.

Abnormalities, Multiple↗
PubMed2003

Chromosome painting shows that the proboscis monkey (Nasalis larvatus) has a derived karyotype and is phylogenetically nested within Asian Colobines.

The exceptional diploid number (2n=48) of the proboscis monkey (Nasalis larvatus) has played a pivotal role in phylogenies that view the proboscis monkey as the most primitive colobine, and a long-isolated genus of the group. In this report we used molecular cytogenetic methods to map the chromosomal homology of the proboscis monkey in order to test these hypotheses. Our results reveal that the N. larvatus karyotype is derived and is not primitive in respect to other colobines (2n=44) and most other Old World monkeys. The diploid number of 2n=48 can be best explained by derived fissions of a segment of human chromosomes 14 and 6. The fragmentation and association of human chromosomes 1 and 19 as seen in other Asian colobines, but not in African colobines, is best explained as a derived reciprocal translocation linking all Asian colobines. The alternating hybridization pattern between four segments homologous to human chromosomes 1 and 19 on N. larvatus chromosome 6 is the result of the reciprocal translocation followed by a pericentric inversion. N. larvatus shares this pericentric inversion with Trachypithecus, but not with Pygathrix. This inversion apparently links Nasalis and Trachypithecus after the divergence of Pygathrix. The karyological data support the view that Asian colobines, including N. larvatus, are monophyletic. They share many linking karyological features separating them from the African colobines. The hybridization pattern also suggests that Nasalis is nested within Asian Colobines and shares a period of common descent with other Asian colobines after the divergence of Pygathrix.

Animals↗
PubMed2005

Comparative chromosome painting in Aotus reveals a highly derived evolution.

The genus Aotus represents a highly diverse group with an especially intricate taxonomy. No standard cytogenetic nomenclature for the genus has yet been established. So far, cytogenetic studies have characterized 18 different karyotypes with diploid numbers ranging from 46 to 58 chromosomes. By combining G-banding comparisons and molecular cytogenetic techniques, we were able to describe the most likely pattern of chromosome evolution and phylogenetic position of two Aotus karyomorphs (KMs) from Venezuela: Aotus nancymai (KM3, 2n=54) and Aotus sp. (KM9, 2n=50). All of the proposed Platyrrhini ancestral associations (2/16, 3/21, 5/7, 8/18, 10/16, 14/15) were found in the Aotus KMs studied, except 2/16 and 10/16. In addition, some derived chromosomal associations were also detected in both KMs (1/3, 1/16, 2/12, 2/20, 3/14, 4/15, 5/15, 7/11, 9/15, 9/17, 10/11, and 10/22). Although some of these associations have been found in other New World monkeys, our results suggest that Aotus species have undergone a highly derived chromosomal evolution. The homologies between these two Aotus KMs and human chromosomes were established, indicating that KM3 has a more derived karyotype than KM9 with respect to the ancestral Platyrrhini karyotype.

Animals↗
PubMed1999

Low-cost household paint abatement to reduce children's blood lead levels.

The purpose was to examine the effectiveness of low-cost abatement on children's blood lead levels. Blood lead was analyzed before and after abatement in 37 homes of children under 7 years old with initial blood lead levels of 25-44 microgram/dL. Ninety-five percent of homes were built before 1950. Abatement methods used were wet-scraping and repainting deteriorated surfaces and wrapping window wells with aluminum or vinyl. A control group was retrospectively selected. Control children were under 7 years old, had initial blood lead levels of 25-44 microgram/dL and a follow-up level at least 28 days afterward, and did not have abatements performed in their homes between blood lead levels. After abatement, statistically significant declines occurred in the intervention children's blood lead levels. The mean decline was 22%, 1 to 6 months after treatment. After adjustment for seasonality and child's age, the mean decline was 6.0 microgram/dL, or 18%. The control children's blood levels did not decline significantly. There was a mean decline of 0.25 microgram/dL, or 0.39%. After adjustment for seasonality and age, the mean decline for control children was 1.6 microgram/dL, or 1.8%. Low-cost abatement and education are effective short-term interim controls.

Child↗
PubMed1988

Cross-sectional epidemiological study on neurotoxicity of solvents in paints and lacquers.

In a multi-disciplinary retrospective study we examined 105 house painters employed for at least ten years (median 27 years, range 10-36 years). Fifty-three workers from various professions (non-painters), who were matched with regard to age, occupational training and socio-economic status served as the control group. In both groups no cases of a clinically manifest polyneuropathy or encephalopathy were found. The neurophysiological examinations (EEG and NCV-measurement) showed no differences in painters and controls that would indicate adverse effects of organic solvents. There were no cases with neuroradiological findings of a diffuse cerebral atrophy. Furthermore the evaluation of certain brain structures (ventricular diameter, cella media index) of the CAT films did not reveal any significant differences. In the neurobehavioral tests significant differences in the results were only found in the subtests "change of personality" and "short term memory capacity" in a subgroup of painters with repeated prenarcotic symptoms at the workplace. Ambient air monitoring measurements at 30 representative workplaces showed that the concentrations of the main components of the solvent-mixtures were well below the MAK-values. The results of the "Erlangen Painter Study" does not confirm former epidemiologic findings from other countries, mainly Denmark. However, there are some aspects, such as minor solvent exposure in German house painters, insufficient diagnostic and etiological procedures as well as misclassifications which may explain the different experiences.

Adolescent↗