Variations in karyotypes of normal premature babies,new-born babies and infants

Summary 4754 lymphocyte metaphases of 36 male and female premature babies, new-born babies and infants were analyzed for the occurrence of numeric and structural chromosome aberrations, of associations and visible satellites of the acrocentric chromosomes. The cell cultures were done after a micro-method according to Hirschhorn and were interrupted after 48 and 72 hrs of culturing. Aneuploidy. 1.87% of all the cells analyzed showed an abnormal number of chromosomes. In the single individual aneuploidic nuclei occurred between 0 and 5% without there being a difference in group of age, sex or time in culture. Structural Abnormalities. In 4.75% of the total number of mitoses analyzed, and between 1to 8% in the single individual, structural abnormalities were recorded. Gaps were found most frequently in chromosomes of group D, breaks in those of group A. The difference between age-groups,sexes, culturing time and culture series has no significance for the occurrence of structural abnormalities. Associations of Acrocentric Chromosomes. Their occurrence depends on the individual, the age-group and the time in culture. Within one age-group with a certain culturing time, an individual is characterized by their occurrence. Satellites. The frequency of D-satellites as well as of G-satellites is characteristic of an individual. Their occurrence with one subject remained the same for both culture periods.

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Zusammenfassung 4754 Lymphocytenmetaphasen von 36 männlichen und weiblichen Frühgeborenen, Neugeborenen und Kleinkindern wurden nach dem Vorkommen von numerischen und strukturellen Aberrationen, von Assoziationen und sichtbaren Satelliten der akrozentrischen Chromosomen untersucht, wobei wir die Zellkulturen, die wir nach einer Mikromethode nach Hirschhorn durchführten, nach 48 und 72 Std Kulturzeit abbrachen. Aneuploidie. Wir beobachteten in 1,87% sämtlicher untersuchter Zellen eine abnorme Chromosomenzahl. Bei den einzelnen Individuen kamen aneuploide Kerne zwischen 0 und 5% vor, ohne daß ein Unterschied zwischen den Altersgruppen, den Geschlechtern oder den Kulturzeiten bestand. Strukturelle Abnormalitäten. Sie traten in 4,75% aller untersuchten Mitosen, bei den einzelnen Probanden zwischen 1 und 8% auf, wobei Gaps am häufigsten auf den Chromosomen der gruppe D, Brüche auf denen der Gruppe A gefunden wurden. Die Altersgruppen, die Geschlechter, die Präparate der verschiedenen Kulturzeiten und Serien unterschieden sich im Vorkommen von Strukturabnomalitäten nicht voneinander. Assoziationen der akrozentrischen Chromosomen. Ihr Vorkommen ist abhängig von: Individuum, Altersgruppe, Kulturzeit. In einer Altersgruppe für eine bestimmte Kulturzeit charakterisiert ihre Häufigkeit ein Individuum. Satelliten. Sowohl die Häufigkeit der D-Satelliten wie auch die der G-Satelliten ist für ein Individuum charakteristisch. Ihr Vorkommen bei einem Probanden war bei beiden Kulturzeiten gleich.

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Presented in part at the Second Colloquium of the Section Cytogenetic of the Gesellschaft für Anthropologie und Humangenetik, June 11th, 1970, in Kiel, and at the symposium on Chemical Mutagenesis as a Problem for Medicine, December 11th, 1970, in Freiburg i. Br.     

Genetic-physiological compatibility and karyotypes of stem nematode]

The paper presents literary and the authors own data. The potato stem eelworm Ditylenchus destructor has a set of chromosomes 2n=44-48 and does not cross with the close species D. dipsaci from onion, garlic, parsley and parsnip. Most stem eelworms of the collective species D. dipsaci have n=12 and cross with each other producing fertile progeny. Some forms of stem eelworms, e.g. those of broad beans, plantain, dandelion and falcaria are polyploid. Intraspecies and intrapopulation polymorphism according to the number of chromosomes was recorded. Some races do not cross, some cross but unilaterally, some races produce sterile, non-viable or little viable hybrids. The species D. dipsaci should be regarded not only as a complex of species but as a group of forms at different stages of intraspecies differentiation.     

Reactions of premature children suffering intracranial birth injury to color stimuli]

The dynamics of formation of integrated reactions to colour stimuli is substantially disturbed in babies of the first three months of life. Stable disturbances in the development of reactions by EEG and somato-vegetative components parameters, accompanied by changes of the neurological status in children with severe symptoms of intracranial delivery trauma, testify to a profound and stable disturbance of the CNS functions and to a change in cortico-subcortical relationships, possibly in connection with an organic lesion of the brain. In the case of a less severe trauma, the dinamics of the formation of reactions is normalized prior to the improvement of the clinical state and is a good prognostic phenomenon. In the light of published data, changes in the vegetative components of reactions in traumatized babies are regarded as resulting from compensatory reactions of the hypothalamic structures to hypoxia.     

Anomalies in thyroid function in children with trisomy 21

Thyroid function of 60 children with Down (DS) aged 3 months to 16 years was studied by evaluation of serum concentration of ultra-sensitive thyroid stimulating hormone (TSH), free T4 and T3 (FT4, FT3), total T4 and T3 (T4 and T3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. The concentration of TSH was increased in DS children while the concentration of rT3 of the DS children was significantly decreased compared to the controls as was the ratio rT3/TSH. These results showed that thyroid function of DS children is abnormal.     

Chromosome aberrations in premature infant lymphocytes]

A cytogenetic investigation of a group of prematurely born babies was carried out during the first months of their life (at ages of 0 days, 5-7 days, 2-4 weeks), as well as of a group of infants born in proper time and having a normal weight. As it was shown by the analysis of chromosome aberrations, frequencies of aberrant cells in babies at ages of 0 days, 5-7 days, 2-4 weeks and in those that have endured some bacterial or viral infection were 1,96% (0.22 aberrations per cell), 3,38% (0,037 aberrations per cell), 4,92% (0,053 aberrations per cell) and 6,73% respectively. The role of infection of drugs in the increase of the frequency of aberrant cells is also indicated by the investigation of babies born in proper time and having normal weight, that have endured an acute respiratory disease. In this group of children the frequency of aberrant cells was 5,3%. However, it is impossible to assess the role of each of these factors separately, since their effect on the organism of prematurely born babies is simultaneous from the very moment of birth.     

Evolution of karyotypes in snakes

Karyotype analysis and morphometric measurement of the chromosomes of 17 species of snakes have been done. Chromosomes of different species so far worked out in each family have been compared using quantitative methods to derive chromosomal affinities between species of different taxonomic categories. The following conclusions have been drawn: (i) It is suggested that the retention of Xenopeltidae as a separate family is unnecessary and the only species Xenopeltis unicolor referred to in that group should be included in the family Boidae. (ii) The subfamilies, Boinae and Pythoninae cannot be distinguished chromosomally. (iii) On the basis of chromosomal similarities, the cytologically known species of Colubridae. have been put into 13 different groupings which do not always correspond to the views of the present day colubrid taxonomists. (iv) In Hydrophiidae, speciation seems to have occurred through changes in the 4th pair of autosomes and sex chromosomes in general and the W chromosome in particular. Evidences are presented to show that fission and inversion have played an important role in bringing about the structural rearrangements in this group. (v) Family Viperidae according to taxonomists is divided into two subfamilies. Both the subfamilies are chromosomally very similar.     

Non-sciuromorph rodent karyotypes in evolution

Rodents are, taxonomically, the most species-rich mammalian order. They display a series of special genomic features including the highest karyotypic diversity, frequent occurrence of complex intraspecies chromosome variability, and a variety of unusual chromosomal sex determination mechanisms not encountered in other mammalian taxa. Rodents also have an abundance of cytochemically heterogeneous heterochromatin. There are also instances of extremely rapid karyotype reorganization and speciation not accompanied by significant genetic differentiation. All these peculiarities make it clear that a detailed study of rodent genomic evolution is indispensable to understand the mode and tempo of mammalian evolution. The aim of this review is to update the data obtained by classical and molecular cytogenetics as well as comparative genomics in order to outline the range of old and emerging problems that remain to be resolved.     

Geographic variation in Giardia karyotypes

Chromosomes of 41 stocks of Giardia duodenalis derived from humans and 14 stocks from other animal species were analysed by field inversion gel electrophoresis (FIGE). These stocks have two predominant karyotypes as judged by FIGE which appear to fit a geographic distribution. Under FIGE conditions used to optimize the detection of size variation in Giardia chromosomes, five or six major chromosomes could be identified. Most of the stocks derived from North America have three major chromosomes smaller than 800 kb while most of the Australian stocks have four. A few exceptions, and minor variations, of these karyotypes were observed. It was estimated that not all of the DNA entered the gel, the remainder being trapped conformations or very large chromosomes. Karyotypes of Giardia stocks from different animal hosts and human sources within a geographical region are similar.     

NMR-based metabolic profiling of children with premature adrenarche

Metabolomics - The effects of lipopolysaccharides (i.e., endotoxin; LPS) on metabolism are poorly defined in lactating dairy cattle experiencing hyperlipidemia. Our objective was to explore the...     

Determinants of premature atherosclerosis in children with end-stage renal disease

Cardiovascular disease is a major cause of morbidity and mortality in young adults with end-stage renal disease (ESRD), but its basis is still not well understood. We therefore evaluated the determinants of atherosclerosis in children with ESRD. A total of 37 children with ESRD (with 31 who had undergone transplantation) were examined and compared to a control group comprising 22 healthy children. The common carotid intima-media thickness (CIMT) was measured by ultrasound as a marker of preclinical atherosclerosis. The association of CIMT with anthropometrical data, blood pressure, plasma lipid levels, and other biochemical parameters potentially related to cardiovascular disease was evaluated. Children with ESRD had significantly higher CIMT, blood pressure, and levels of lipoprotein (a), urea, creatinine, ferritin, homocysteine, and serum uric acid as well as significantly lower values of apolipoprotein A. The atherogenic index of plasma (log(triglycerides/HDL cholesterol)) was also higher in patients with ESRD; however, this difference reached only borderline significance. In addition, a negative correlation was found between CIMT and serum albumin and bilirubin in the ESRD group, and this correlation was independent of age and body mass index. In the control group, a significant positive correlation was observed between CIMT and ferritin levels. Factors other than traditional cardiovascular properties, such as the anti-oxidative capacity of circulating blood, may be of importance during the early stages of atherosclerosis in children with end-stage renal disease.     

Evaluation of micronucleated lymphocytes, constitutional karyotypes and anti-p53 antibodies in 21 children with various malignancies

The implication of environmental carcinogens in childhood cancer is still unknown. To assess a possible link between DNA damage and alterations of the tumor suppressor gene p53, blood samples of 21 children with malignancies were examined for the presence of micronuclei in lymphocytes using the cytokinesis blocked micronucleus assay (CBMA). The constitutional karyotypes were analyzed for chromosome abnormalities and the presence of anti-p53 antibodies in blood sera was evaluated by an enzyme-linked immuno sorbent assay (ELISA). A control group of 20 children was also included. The rates of micronucleated cells were 5.1 per thousand+/-3.9 and 2.4 per thousand+/-2.3 for the cancer and control groups, respectively. The difference between the groups were statistically significant (P<0.05 by the Mann-Withney rank sum test). Two children in the cancer group showed extensive chromosome breakage in lymphocytes. The sera of two other children from the cancer group and of one child from the control group contained anti-p53 antibodies. Chromosome breakage and anti-p53 antibodies from the five children were associated with increased micronucleated cell rates. The results of the present study suggest that genotoxic events can occur in the lymphocytes of children with a cancerous state.     

Analysis of bivariate flow karyotypes

Bivariate flow karyotype analysis is performed using data from chromosomes stained with two fluorescent dyes, typically chromomycin A3 and Hoechst-33258, and measured in a flow cytometer or cell sorter (Carrano et al.: Proceedings of the National Academy of Sciences of the United States of America 76:1382-1384, 1979; Gray et al.: Proceedings of the National Academy of Sciences of the United States of America 72:1231-1234, 1975; Langlois et al.: Proceedings of the National Academy of Sciences of the United States of America 79:7876-7880, 1982). In the resulting bivariate histogram, most chromosome types appear as individual peaks. In sorting of chromosomes to purify a specific chromosomal type, its corresponding peak in the bivariate histogram is delineated by a rectangular region which surrounds it. All events (objects) that fall within this region trigger the sorting process. In most cases, peaks for different chromosomal types overlap to some extent, and in addition there is always an underlying background due to chromosome fragments and clumps. Thus the sorted population will not be pure; it may include more than one chromosome type and will include debris. To determine the purity of a sort, i.e., the percentage of the sorted material that is of the actual chromosomal type desired, two methods of mathematical analysis have been developed. In the more general method, the bivariate data within an analysis region that includes the sort region, are fit with a series of bivariate Gaussian functions, one for each peak. In a simplified method, the data within the analysis region are transformed into a univariate distribution of either chromomycin A3 or Hoechst-33258 fluorescence. The peaks in these univariate distributions are fit with univariate Gaussian functions. In both methods the purity is determined mathematically. The results of both methods agree well with independent methods of analysis.     

N-banded karyotypes of wheat species

Nine of the twenty-one chromosome pairs of the hexaploid wheat Triticum aestivum var. Chinese Spring (genome constitution AABBDD) show distinctive N-banding patterns. These nine chromosomes are 4A, 7A and all of the B genome chromosomes. The remaining chromosomes show either faint bands or no bands at all. Tetraploid wheat, T. dicoccoides (AABB), showed banded chromosomes similar to those observed in the hexaploid. Of the diploid species T. monococcum, T. boeoticum, T. urartu and Aegilops sauarrosa showed little or no banding as would be expected of donors of the A and D genomes. Ae. speltoides had a number of N-banded chromosomes as would be expected of a candidate for the B genome donor. Since N-bands are not evident on some nucleolar organiser chromosomes, the staining specificity cannot be correlated with the presence of nucleolar organiser regions.