Interstitial telomeric sequences (ITSs) are not located at the exact evolutionary breakpoints in primates.

Although their function has not yet been clearly elucidated, interstitial telomeric sequences (ITSs) have been cytogenetically associated with chromosomal reorganizations, fragile sites, and recombination hotspots. In this paper, we show that ITSs are not located at the exact evolutionary breakpoints of the inversions between human and chimpanzee and between human and rhesus macaque chromosomes. We proved that ITSs are not signs of repair in the breakpoints of the chromosome reorganizations analyzed. We found ITSs in the region (0.7-2.7 Mb) flanking one of the two breakpoints in all the inversions assessed. The presence of ITSs in those locations is not by chance. They are short (up to 7.83 repeats) and almost perfect (82.5-97.1% matches). The ITSs are conserved in the species compared, showing that they were present before the reorganizations occurred.

[Suspected child abuse in paediatric emergency service]. / Sospecha de maltrato infantil en urgencias pediátricas.

OBJECTIVE: To describe the epidemiology of child abuse in an emergency department of a tertiary paediatric hospital. METHODS: Descriptive and retrospective study from January 2008 to January 2006 including patients less than sixteen years of age who were suspected of being abused during the examination in the emergency department. RESULTS: Child maltreatment was 0.07% of all paediatric emergencies (45% physical abuse, 35% sexual abuse and 20% neglect). Mean age of 6 years old, with no gender differences. 86% were suspected of maltreatment. An adult living with the child was suspected in 67% of cases. Social and judicial procedures were activated. A total of 24 children were admitted, 14 under medical criteria and the rest in order to protect the child; 2 had serious neurological consequences and one died. Eight patients were discharged to social service care centres. CONCLUSIONS: We believe it is necessary to improve the pediatrician's knowledge of child abuse and to create specialized units.

Evolutionary conserved chromosomal segments in the human karyotype are bounded by unstable chromosome bands.

In this paper an ancestral karyotype for primates, defining for the first time the ancestral chromosome morphology and the banding patterns, is proposed, and the ancestral syntenic chromosomal segments are identified in the human karyotype. The chromosomal bands that are boundaries of ancestral segments are identified. We have analyzed from data published in the literature 35 different primate species from 19 genera, using the order Scandentia, as well as other published mammalian species as out-groups, and propose an ancestral chromosome number of 2n = 54 for primates, which includes the following chromosomal forms: 1(a+c(1)), 1(b+c(2)), 2a, 2b, 3/21, 4, 5, 6, 7a, 7b, 8, 9, 10a, 10b, 11, 12a/22a, 12b/22b, 13, 14/15, 16a, 16b, 17, 18, 19a, 19b, 20 and X and Y. From this analysis, we have been able to point out the human chromosome bands more "prone" to breakage during the evolutionary pathways and/or pathology processes. We have observed that 89.09% of the human chromosome bands, which are boundaries for ancestral chromosome segments, contain common fragile sites and/or intrachromosomal telomeric-like sequences. A more in depth analysis of twelve different human chromosomes has allowed us to determine that 62.16% of the chromosomal bands implicated in inversions and 100% involved in fusions/fissions correspond to fragile sites, intrachromosomal telomeric-like sequences and/or bands significantly affected by X irradiation. In addition, 73% of the bands affected in pathological processes are co-localized in bands where fragile sites, intrachromosomal telomeric-like sequences, bands significantly affected by X irradiation and/or evolutionary chromosomal bands have been described. Our data also support the hypothesis that chromosomal breakages detected in pathological processes are not randomly distributed along the chromosomes, but rather concentrate in those important evolutionary chromosome bands which correspond to fragile sites and/or intrachromosomal telomeric-like sequences.

Evolutionary breakpoints are co-localized with fragile sites and intrachromosomal telomeric sequences in primates.

The concentration of evolutionary breakpoints in primate karyotypes in some particular regions or chromosome bands suggests that these chromosome regions are more prone to breakage. This is the first extensive comparative study which investigates a possible relationship of two genetic markers (intrachromosomal telomeric sequences [TTAGGG]n, [ITSs] and fragile sites [FSs]), which are implicated in the evolutionary process as well as in chromosome rearrangements. For this purpose, we have analyzed: (a) the cytogenetic expression of aphidicolin-induced FSs in Cebus apella and Cebus nigrivittatus (F. Cebidae, Platyrrhini) and Mandrillus sphinx (F. Cercopithecidae, Catarrhini), and (b) the intrachromosomal position of telomeric-like sequences by FISH with a synthetic (TTAGGG)n probe in C. apella chromosomes. The multinomial FSM statistical model allowed us to determinate 53 FSs in C. apella, 16 FSs in C. nigrivittatus and 50 FSs in M. sphinx. As expected, all telomeres hybridized with the probe, and 55 intrachromosomal loci were also detected in the Cebus apella karyotype. The chi(2) test indicates that the coincidence of the location of Cebus and Mandrillus FSs with the location of human FSs is significant (P < 0.005). Based on a comparative cytogenetic study among different primate species we have identified (or described) the chromosome bands in the karyotypes of Papionini and Cebus species implicated in evolutionary reorganizations. More than 80% of these evolutionary breakpoints are located in chromosome bands that express FSs and/or contain ITSs.

Chromosome abnormalities in peripheral blood lymphocytes from Macaca fascicularis and Erythrocebus patas (Cercopithecidae, Catarrhini) after X-ray irradiation.

In this paper, we describe the results of a qualitative and quantitative study of chromosomal reorganizations in X-irradiated (1 Gy and 2 Gy) lymphocytes from Macaca fascicularis (MFA) and Erythrocebus patas (EPA). A total of 515 breakpoints in M. fascicularis and 271 breakpoints in E. patas have been detected, identified and localized in the ideogram of the species. The Chi square test indicates that the distribution of breakpoints along the chromosomes is not random in M. fascicularis, and is not random for the p and q arms and bands in both species. Chromosome 5 of M. fascicularis (MFA5), chromosome 1 of E. patas (EPA1), and chromosome arms MFA5q, and EPA 1p are significantly more affected than expected, while chromosome MFA9 is less affected. Terminal regions of chromosome arms accumulate a higher number of breakpoints than the rest of the chromosome (44.4% in M. fascicularis and 45.98% in E. patas); 92.06% and 91.97% of breakpoints are observed in G negative bands in M. fascicularis and E. patas, respectively.

Chromosome abnormalities in peripheral blood lymphocytes from Cebus apella (Cebidae, Platyrrhini) after X-ray irradiation.

In this paper, we describe the results of a qualitative and quantitative study of chromosomal reorganizations observed in X-irradiated (1Gy and 2Gy) and cultured lymphocytes from Cebus apella. A total of 646 breakpoints have been detected, identified and localized in the ideogram of the species. The breakpoint distribution along chromosomes, p and q arms, and bands is not random. Chromosomes #11, #12 and chromosome arms 1p, 12p, 13p, 15p, 11q, and 12q are significantly more affected than expected, while chromosome #19 and chromosome arm 19q are less affected. Terminal regions of chromosome arms accumulate a higher number of breakpoints than the rest of the chromosome (37.82%). A high percentage (93.66%) of breakpoints is found in G negative bands.

Banding patterns of the chromosomes of Presbytis cristatus pyrrhus and P. obscurus.

The G- and Q-bands and the location of the nucleolar organizer regions (NOR) in the chromosomes of Presbytis obscurus and the Q- and C-bands of P. cristatus pyrrhus are described. Their chromosomes are compared to those of Macaca mulatta and to other Cercopithecidae and Hylobatidae. The origin of the two different banding patterns of pair no. 1 in our specimen of P. cristatus pyrrhus is discussed.

Constitutive heterochromatin polymorphism in Lagothrix lagothricha cana, Cebus apella, and Cebus capucinus.

We describe the C-bands in the karyotypes of Lagothrix lagothricha cana, Cebus apella and Cebus capucinus. The C-banding patterns show both a high degree of polymorphism as well as the presence of terminal and interstitial C-bands. Varying amounts of heterochromatin result in dimorphism of some chromosome pairs. The high incidence of chromosome rearrangements found in the Cebidae may be due to the presence of terminal and interstitial C-bands.

Prometaphase chromosomes of the howler monkey (Aloutta caraya): G, C, NOR, and restriction enzyme (RES) banding.

Prometaphase lymphocyte chromosomes from eight adult argentinian Alouatta caraya females were characterized using sequential G-C banding techniques, Ag-NOR bands and bands obtained with the restriction enzymes Hae III, Eco RI, Alu I and Sau 3A. The cytogenetic analysis showed 2n = 52, with four, five, or six NOR chromosomes. Digestion with Hae III and Eco RI produced G-like-bands. Centromere regions and two interstitial C-bands (in chromosomes number 16 and 21) showed intraindividual or interindividual heterochromatic polymorphisms. Alu I digestion produced C-like bands with gaps in the centromere regions, and Sau 3A produced C-like bands. The karyotypes and banding patterns of A. caraya, A. palliata, A. belzebul, and A. seniculus are compared, based on whole chromosome and whole arm homeologies. © 1994 Wiley-Liss, Inc.

High-resolution chromosome banding studies in Cebus apella, Cebus albifrons, and Lagothrix lagothricha: Comparison with the human karyotype.

Karyotypes of three species of South American primates (Cebus apella, Cebus albifrons, and Lagothrix lagothricha) were studied using high-resolution banding techniques, and were compared to the human karyotype. The number of homologies was very high for the three species. Some of the breakpoints implicated in chromosome rearrangements corresponded with human fragile sites. The fragile sites in human chromosomes often correspond with the localization of latent centromeres in the platyrrhines or with large heterochromatic regions that may have been lost or newly added during evolution.

Heterochromatin and cytogenetic polymorphisms in Cebus apella (Cebidae, Platyrrhini).

Cytogenetic studies have been carried out in 39 specimens of C. apella of different origins. Three different morphologies, one affecting the long arm of chromosome 4 and two affecting pair 17, have been detected. In each case, they can be related by paracentric inversions. Heterochromatin polymorphisms affecting terminal or interstitial C+ regions have also been observed. The length of the terminal heterochromatic region in the long arms of chromosome 11 is variable in C. apella sp., in C. a. paraguayanus and absent in the C. a. nigritus specimens studied. Interstitial C + bands can be observed in the long arms of the biarmed chromosomes 4 and 6, and in the long arms of the acrocentric pairs 12, 13, 17, 18, 19, 20, and 21. Interstitial C + bands in the long arms of chromosomes 4, 12, 17, and 19 are present in all animals studied, although their size is variable, especially in the case of chromosomes 17 and 19. © 1995 Wiley-Liss, Inc.

Scanning electron microscope (SEM) study of mouse embryos obtained from isolated blastomeres.

Preimplantation diagnosis and embryo sexing offer great possibilities in the prevention of human diseases and in the field of animal production. These techniques involve blastomere isolation. Isolated blastomeres can grow in culture and develop as whole embryos. In this paper we describe, at the scanning electron microscope level, the characteristics of the plasma membrane surface of isolated blastomeres obtained from mouse embryos at the two-cell stage and of embryos grown to the 2/4- and 4/8-cell stages and compare them to control embryos grown in vitro. According to our results the in vitro manipulation of these embryos does not affect the surface characteristics of the plasma membrane in the early cleavage stages.

Freezing of zona-free mouse embryos: characteristics of the plasma membrane and subsequent development of the embryos.

Frozen-thawed mouse embryos with (+ZP) and without (-ZP) zona pellucida have been studied at the Scanning Electron Microscope (SEM) to determine how the process affects the plasma membrane and the subsequent embryo development. The main difference observed in -ZP embryos immediately after thawing is the abnormal morphology and distribution of microvilli. This could explain the spontaneous separation of blastomeres in -ZP embryos, and the decrease in their survival rate. If thawed -ZP embryos are allowed to recover in culture, their plasma membrane characteristics and survival rate are identical to those of control embryos.

Cytogenetic studies of oocyte fusion products.

We describe for the first time the cytogenetic characteristics of mouse 'embryos' obtained by oocyte fusion (oocyte fusion products; OFP). Our results indicate that, after fusion, meiosis II is resumed correctly, with extrusion of two haploid polar bodies, and that metaphase synchronisation of the two haploid sets and chromosome segregation during the first cleavage are also normal.

A simple method for processing individual oocytes and embryos for electron microscopy.

A simple method for handling individual specimens that must be processed either for scanning or transmission electron microscopy studies is described. For scanning microscope processing, dehydration is carried out with samples enclosed in small cages made from TAAB capsules in which top and bottom are substituted by plankton nets, and for transmission electron microscopy, samples are preembedded in agarose. This procedure significantly reduces mouth pipetting, dissecting microscope observations, is less labour intensive and, most importantly, reduces sample loss.

Chromosomal polymorphism and somatic segregation in Saimiri sciureus.

Quinacrine (Q) and Giemsa (G) banding, and sister chromatid exchange (SCE) studies have been carried out in Saimiri sciureus. In one male and one female studied, the diploid number was 2n = 44 and the karyotype corresponded to that described for the geographical region of Georgetown, Guyana. In the second male three different cell lines were observed, one corresponding to the geographical region of Leticia (Colombia), another to the geographical location of Iquitos (Peru) and a third line with 46 chromosomes. In the three lines, pair A2 was heterozygous, with nucleolar organizers of different size, and pari B6 was also heterozygous, with different amounts of heterochromatin in the short arms. The presence of three different cell lines in this male may be due to a mechanism of somatic segregation. The chromosomal changes involved in the intraspecific polymorphism found in Saimiri have been reinterpreted.

Ultrastructural studies of early mouse embryos obtained by oocyte fusion.

Oocyte fusion induced by inactivated Sendai virus results in the production of 'zygotes' that are able to undergo the first stages of embryonic development. The oocyte fusion products (OFP) obtained follow a morphological developmental pattern equivalent to that of control embryos, at least up to the 8-cell stage. The percentage of OFP that reach the 8-cell stage is extremely low (3%) compared with control embryos cultured in vitro (95%). On light microscopy, the OFP obtained show morphological characteristics identical to control embryos, although their cell diameters are larger. The cortical reaction, meiotic reactivation, extrusion of second polar bodies and pronucleus formation take place as observed in controls. The ultrastructural characteristics of oocyte fusion products at the 1-, 2-, 4- and 8-cell stages are analogous to those of controls, including the presence of structures related to the activation of the embryo genome. However some differences concerning cell ultrastructure, mainly in the nucleus, are observed and discussed in the text.

Evolution of the Simiiformes and the phylogeny of human chromosomes.

This paper is based on the results of Primate chromosome studies obtained using high resolution techniques in our and other laboratories. We discuss the origin and the evolution of the chromosomes in the human karyotype and the time in evolution of the Simiiformes when they acquired their present morphology. Our results indicate that the chromosomes that underwent a higher number of reorganizations during the evolution of the Simiiformes coincide with the chromosomes most often implicated in human chromosome pathology. We describe the main reorganizations that took place during Primate evolution. Centromere activation and inactivation and heterochromatin changes are discussed as mechanisms of chromosome evolution.

Trivalent behavior during prophase I in male mice heterozygous for three Robertsonian translocations: an electron-microscopic study.

A synaptonemal complex (SC) analysis was carried out in male mice heterozygous (CHT/+) for three Robertsonian translocations. All pachytene preparations studied showed the presence of three trivalents. At early pachytene, the nonhomologous centromeric regions of the acrocentric chromosomes were unpaired. Heterosynapsis subsequently took place with complete pairing of the trivalents. Association between one of the three trivalents and the sex vesicle was observed in 30.4% of the nuclei. Association between the unpaired regions of two trivalents was present in 14.4% of the cells, suggesting that the relationship between unpaired regions of structural rearrangements and the X-Y bivalent may simply reflect the tendency of unpaired regions to establish end-to-end associations or heterosynapses among them, which are usually resolved during the pachytene stage of prophase I. Since the sex bivalent always has unpaired regions, these associations often affect the sex chromosomes.