Cytogenetic studies in spontaneous abortuses

Summary In a series of 450 products of conception received for cytogenetic analysis, tissue culture was attempted on 309, and karyotypes were established using banding techniques in 154 singleton specimens. Abnormalities of karyotype were identified in 19%; of these abnormalities, 48% were autosomal trisomies. Gestational age was decreased in the abnormal specimens, and their developmental age was retarded by comparison with their gestational age. Factors contributing to the relatively low incidence of abnormality are examined. The major factor appears to be the clinical interest of collaborating staff, leading to selection, either intentional or unintentional, of particular phenotypes and hence a non-random series. A negative relationship is suggested between frequency of monsomy X and autosomal trisomy, both being associated with maternal age.     

Cytogenetic studies on mid-trimester abortuses

Summary Cell cultures were set up from the skin, the kidneys, the small intestines, the gonads, and/or the lungs of 103 second trimester spontaneous abortuses. Out of these abortuses 55 gave rise to cell cultures with satisfactory growth. A normal diploid chromosome complement was found in 35 and a chromosome abnormality could be detected in 20 abortuses. X monosomy, autosomal aneuploidy, and structural aberration was observed in 5, 7 and 8 of the 20 abortuses with abnormal karyotypes, respectively. A special characteristic of the results was the high incidence of mosaics among aneuploidies and the frequent occurrence of structural anomalies. Based on these results and on those reported in the literature a pattern of chromosomal-genetic selection occurring during prenatal life was proposed.     

Cytogenetic studies in human sperm

Summary Sperm chromosome studies were performed in seven males. One of them had a history of exposure to lysergic acid (LSD) although he was free of the drug for 1 year before the study began. Sixteen ejaculates provided a total of 555 fully analyzable sperm cells. The overall frequency of hyperhaploid sperm cells was 2% and that of structural abnormality 3.6%. The most common structural abnormality was chromosome breaks followed by small chromosome fragments of unknown origin. Three chromosome breakpoints, 10q25, 2q21, and 9q21, were involved twice in different chromosome or chromatid type aberrations. Two of these, 10q25 and 2q21, correspond to chromosomal locations known as common fragile sites.     

Cytogenetic studies in the genus Zea

Summary New cytological evidence supporting x = 5 as the basic chromosome number of the genus Zea has been obtained as a consequence of our analysis of the meiotic configurations of Zea mays ssp. mays, Z. diploperennis, Z. perennis and of four F₁ artificial interspecific hybrids. Z. mays ssp. mays (2n = 20) presents regular meiosis with 10 bivalents (II) and is considered here as a typical allotetraploid (A₂A₂B₂B₂). In Z. diploperennis (2n = 20) 10II are formed in the majority of the cells, but the formation of 1III + 8II + 1I or 1III + 711 + 3I in 4% of the cells would indicate its segmental allotetraploid nature (A₁A₁B₁B₁). Z. perennis (2n = 40) had 5IV + 10II in 55% of the cells and would be considered as an auto-allooctoploid (A₁A₁A'₁A'₁C₁C₁C₂C₂). Z. diploperennis x Z. mays ssp. mays (2n = 20) presents 10II in ca. 70% of the cells and no multivalents are formed. In the two 2n = 30 hybrids (Z. mays ssp. mays x Z. perennis and Z. diploperennis x Z. perennis) the most frequent meiotic configuration was 5III + 5II + 5I and in 2n = 40 hybrid (Z. diploperennis x Z. perennis) was 5IV + 10II. Moreover, secondary association was observed in the three abovementioned tetraploid taxa (2n = 20) where one to five groups of two bivalents each at diakinesis-metaphase I was formed showing the affinities between homoeologous genomes. The results, as a whole, can be interpreed by assuming a basic x = 5 in this polyploid complex. The main previous contributions that support this working hypothesis are reviewed and its phylogenetic implications studied are discussed.     

Cytogenetic studies in the genus Zea

Summary The nuclear DNA amount and the heterochromatin content in species and hybrids of Zea were analyzed in telophase nuclei (2C) of the root apex of germinating seeds. The results revealed significant differences among taxa and also among lines and races of maize. The hybrids between Z. mays ssp. mays x Z. mays ssp. mexicana (2n=20), Z. diploperennis x Z. perennis (2n=30), and Z. diploperennis x Z.perennis (2n=40) showed DNA content intermediate between that of the parents. The number of chromosomal C-bands and the proportion of the genome comprising C-band heterochromatin were positively related to genome size. In the different lines and races of maize studied, there was a positive correlation between genome size and the interval from germination to flowering. Octoploid Z. perennis (2n=40) showed the smallest DNA content per basic genome and the smallest heterochromatic blocks, suggesting that the DNA lost by this species consisted mainly of repetitive sequences. Considering that the extant species of Zea are tetraploid (2n=20) and octoploid (2n=40) and that the ancestral diploids are extinct, any consideration of the direction (increase or decrease) of the DNA change would be entirely speculative. The extant species could be the product of natural and artificial selection acting on different genotypic and nucleotypical constitutions at the diploid and/or tetraploid levels.