Correlation between Reasons for Prescription and Karyotype Results in Patients Referred for Suspected Chromosomal Abnormalities

Karyotype prescription is based on clinical signs (or reasons for karyotype prescription) which are phenotypic manifestations associated with chromosomal abnormalities. The aim of this study was to establish a correspondence between karyotype indications and their results in patients. This was a retrospective study that was carried out in the Histology-Embryology-Cytogenetics laboratory of the University Hospital of Cocody-Abidjan from 2014 to 2019. 58 patient files were identified and included the indication or reason for prescribing a constitutional karyotype and the biological result obtained. An individual data sheet was used to collect the data. 17 reasons for prescription were identified and divided into 2 groups. Sexual ambiguity was the most frequent reason (29.3%). The first group (G1) represented the 10 reasons for which the karyotype results were normal. The second group (G2) corresponded of the 7 motives with normal or abnormal karyotype results. Several anomalies were listed according to these reasons: inversions, mosaics (anomalies of number and structure) and trisomy 21. The last was the most frequent chromosomal anomaly (69.24%). It was found in several reasons for karyotype prescription: malformations, neurological disorders, suspected trisomy and cardiac pathology. Several factors could explain these results, among which are the limits of the karyotype and the non-genetic causes that can induce these abnormal phenotypes. Complementary examinations to the karyotype are molecular cytogenetic techniques, notably fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (Array-CGH).

Cytological Evaluation and Karyotype Analysis in Plant Germplasms of Elytrigia Desv.

Elytrigia Desv. is widely distributed throughout the world and is represented with species of various levels of ploidy including diploids, tetraploids, hexaploids, octaploids, and decaploids. The distribution pattern of these ploidy levels, however, is not well-defined. In this study, the levels of ploidy for 64 accessions of Elytrigia from 25 countries were determined with microscopic procedures. The results showed that accessions of E. intermedia and E. repens were grouped into three distinct levels of ploidy including diploids, tetraploids and hexaploids. For E. elongata, E. pontica, and E. caespitosa, it was found that two ploidy levels presented, and only one ploidy level was in those of E. hybrid, E. pycnantha, E. pungens, E. juncea, and E. alatavica. Karyotype analysis indicated that the karyotype formula of diploid, tetraploid and hexaploid of E. intermedia was 2n = 2x = 14 = 6m ＋ 6sm ＋ 2st, 2n = 4x = 28 = 2M ＋ 10m ＋ 16sm and 2n = 6x = 42 = 4M ＋ 18m ＋ 20sin, respectively. Furthermore, the karyotype formula of three germplasms in tetraploid of E. intermedia was 2n=4x=28 =2M＋ 10m＋ 16sm, 2n=4x=28=4M＋22m （sat）＋2sm and 2n=4x=28 =4M＋ 12m＋ 12sm （sat）, which were not completely uniform. Therefore, it could be suggested that the studies about chromosome constitution would be helpful for the detail understanding of the diversity of germplasm resource in Elytrigia and promoting the utilization in the crop molecular breeding.

High molecular karyotype variation revealed in indigenous Elymus nutans in the Qinghai Plateau

The karyotypes of 27 individuals of Elymus nutans from eight wild populations in the Qinghai Plateau were analyzed using sequential FISH and GISH. High FISH pattern polymorphism and karyotype variation were detected within and among populations. The chromosome variations were mainly characterized as repeat deletions and amplifications along with inter-genomic translocations. The chromosomes of the St and Y genomes demonstrated higher polymorphism than those of the H genome. Six different intergenomic translocations were identified in 33.3% of individuals; type Ⅰ and Ⅱ translocations were detected with higher frequency. Further analysis revealed that type Ⅰ and Ⅱ translocations were distributed in different geographic regions. The origin of high karyotype variation of E. nutans in the Qinghai plateau is further discussed.

Meiotic abnormalities in metaphase I human spermatocytes from infertile males： frequencies, chromosomes involved, and relationship with polymorphic karyotype and seminal parameters

The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.

Karyotype and cytogeography of the genus Heracleum (Apiaceae) in the Hengduan Mountains

In the present study, the karyotypes of 34 populations belonging to 11 species and one variety of Heracleum from the Hengduan Mountains in China were examined. Chromosome numbers and the karyotypes of three species （H. souliei, H. la＇ngdoni, and H. wenchuanense） are reported for the first time, as are the karyotypes of H. moellendorffii and H. henryi （tetraploid）. Populations of H. candicans, H. franchetii, and H. kingdoni in the Hengduan Mountains were found to consist of a mixture of diploid and tetraploid plants. Except for four species of Heracleum, namely H. candicans, H. franchetii, H. henryi, and H.kingdoni, which have both diploid and tetraploid karyotypes, all other species of Heracleum are were found to be diploid. All karyotypes were found to belong to the 2A type of Stebbins, with the exception ofH. candicans var. obtusifolium, which belongs to 2B, and H. hemsleyanum and H. franchetii （Mt. Dujuan, Daocheng, Sichuan, China）, which belong to 1A. There was only a slight difference in the karyotype asymmetry index, which suggests a close kinship for species of Heracleum and that the entire phylogenetic development of Heracleum is relatively primitive. Species that exhibited advanced morphological features were also more advanced in karyotype structure, with the order ofkaryotype evolution being 1A→2A→2B. This phenomenon indicates that the species distributed in the Hengduan Mountains have not diverged completely and that the Hengduan Mountains are a relatively young and active area for the evolution of Heracleum. Polyploidization in Heracleum may be an important evolutionary mechanisms for some species, generating diversity. The biological attributes, distribution range, and the geological history of the genus have all played a part in accelerating the evolution through polyploidization or aneuploidization. It is known that as the distribution latitude of Heracleum decreases from north to south, the chromosome number, ploidy level, and asymmetry structure appear to increase. In the Hengduan Mountains, these tendencies are also evident. Finally, based on all the available cytogeographic data, we speculate that the more advanced tetraplont or aneuploid species of Heracleum in India may be derived from early diplont species that were distributed in the Caucasus region and Hengduan Mountains. The dispersal of Heracleum was from Eurasia to India, because this correlates with the emergence of the Himalayan Mountains through tectonic movement. Thus, the Hengduan Mountains are not only a center of diversity for Heracleurn, but also a center of active speciation in modern times.

Karyotypes of three species of the marine Veneroida molluscs

The karyotypes of three species of marine Veneroida molluscs, Solen grandis Dunker, Saxidomus purpuratus Sowerby and Mactra chinensis Philippi were studied by using the adult gill tissues. The chromosomes were-prepared through injecting phytohemagglutinin (PHA) and colchicine, hypotonic treatment, chopping air-dry, and squashing technology. The results show that the diploid chromosome numbers of the three Veneroida species are the same as 2n = 38. The karyotype of Solen grandis is 26m + 6sm + 2st + 4t, NF = 70, the karyotype of Saxidomus purpuratus is 32m + 2sm + 4st/t, NF = 72, and the karyotype of Mactra chinensis is 20m + 16sm + 2st/t, NF = 74. Satellite and sex chromosome were not found among the chromosomes of three species.

Mouse Karyotype Obtained by Combining DAPI Staining with Image Analysis

In this study, mitotic metaphase chromosomes in mouse were identified by a new chromosome fluorescence banding technique combining DAPI staining with image analysis. Clear 4＇, 6-diamidino-2-phenylindole （DAPI） multiple bands like （J-hands could be produced in mouse. The Meta- Morph software was then used to generate linescans of pixel intensity for the banded chromosomes from short arm to long arm. These linescans were sufficient not only to identify each individual chromosome but also analyze the physical sites of bands in chromosome. Based on the results, the clear and accurate karyotype of mouse metaphase chromosomes was established. The technique is therefore considered to he a new method for cytological studies of mouse.

Study on Karyotype of Hobby (Falco subbuteo) and Kestrel (Falco tinnunculus)

This paper reported karyotypes of the Hobby and Kestrel collected from the suburb of Qiqihaer City. These karyotypes were compared and analyzed, on the basis of the study of karyotypes of nine birds species in Falconiformes by Bian Xiaozhuang and Li Qingwei. It was considered that differences in habits of birds and ecological environment not only cause falcons to differ from others, but also differences in a genus, even within a species. This difference may result from fusion of microchromosomes.

Karyotypes of field mice of the genus Apodemus (Mammalia： Rodentia) from China

Karyotypes of four Chinese species of field mice of the genus Apodemus were examined,including Apodemus chevrieri （diploid chromosome number,2n=48,fundamental number of autosomal arms,FNa=56）,A.draco （2n=48,FNa=48）,A.ilex （2n=48,FNa=48）,and A.latronum （2n=48,FNa=48）.Karyotypes of A.chevrieri,A.draco,and A.ilex are reported here for the first time,providing useful information for their species taxonomy.Determining the karyotypes of all species of Apodemus in Asia,both in this and previous studies,provides a solid overview of the chromosome evolution and species differentiation of the genus in East Asia.In addition to allopatric speciation,chromosome rearrangements likely played an important role in the formation of the four Apodemus species groups as well as speciation within each group in East Asia.For example,increased centromeric heterochromatin in A.latronum may have contributed to the post-mating reproductive isolation from the A.draco-A.ilex-A.semotus clade.

Karyotype Analysis of Cyprinus carpio in Dongping Lake

To investigate the genetic composition of the carp （Cyprinus carpio） in Dongping Lake and to provide eytogenetie data for exploration, protection and appropriate utilization of the germplasm resources, karyotype of the carp was analyzed in this study. In detail, colehieine was given to the fish an intraperitoneal route 24 h after the intraperitoneal injection of phytohemagglutinin （PHA） solution to arrest cells in metaphase. The kidney cells were collected for the preparation of chromosome specimens, which were observed under a microscope. Ten cells having correct number of chromosomes and clear morphology were photographed and zoomed to measure the relative length, arm ratio, ann number （NF） and other parameters of chromosomes. The results showed that the chromosome number of C. earpio in Dongping Lake was （2n = 100） ; the karyotype formula was （2n =20m ＋38sm ＋20st ＋22t）. The total number of chromosome arms （NF） was 158. By comparing the karyotype of Dongping Lake carp with that of other Cyprinus species, we concluded that Dongping Lake carp is more highly evolved among Cyprinus species.

Experimental Researches on Carcinogenesis or Tumorigenicity of MDCK Canine Kidney Cell(CKC) Lines and Analysis of Their Chromosome Karyotypes

The chromosomal number variations & structural aberrations of the MDCK cell line, primary feline or canine kidney cell(FKC or CKC) and Hela cell line were investigated and their karyotypes of conventional chromosome bands were analyzed. The carcinogenesis or tumorigenicity testing of these cell lines in about 232 nude mice and for colony formation in soft agarose and for haemagglutination under different concentration of plant lectins of these cells were carried out. Under the prerequisite that the incidence of cancer or tumor in negative-control nude mice inoculated subcutaneously with primary feline or canine kidney cell cultures purified in vitro at passage 3 was 0 (0/22) and 0 (0/10), respectively. The incidence of the progressively-growing malignant tumor(MT) in positive-control nude mice inoculated subcutaneously with Hela cell cultures of KB, X, or NM20/X strain was 10/10, 25/25 and 5/51, respectively. The results showed that the incidence of tumor in nude mice with tetraploid YA strain of MDCK cell during 20 - 45 passages, with hy-podiploid JB strain of MDCK cell on passage 25, with di-and hypoploid JC strain of MDCK cell during 2-15 passages or with hypoploid M strain of MDCK cell during 9 - 27 passages was 28/58, 1/5, 4/18 and 0/31, respectively. The chromosomal analysis results showed that the ratio of difference in the rate of modal chromosome number between high(mcs+ n) and lowest (mcs) passages was not more than 5% - 15% and the structure aberrations was generally 0 - 3% . These results proved that the genetic characteristics of chromosomal number of cell lines determines their tumorigenicity, but it is species-specific. MDCK line has tumorigenicity no matter what its chromosome karyotype is, at least it has very low tumorigenicity even when its modal chromosome number is hypoploid. The repeatedly frozen, thawed and split controls of tumorigenicity-positive cell lines(X strain of Hela, M strain of BHK-21, JA strain of Vero, YA strain of MDCK) have much lower tumorigenicity or are even non-carcinogenesis, and the repeatedly frozen, thawed and split controls of very low tumorigenicity cell lines (M or JC strain of MDCK) are certainly non-carcinogenic and never have increased tumorigenicity. It is thus evident that MDCK cell of M, JB or JC strain can be approved as substrate for the preparation of attenuated viral vaccines, but MDCK cell of YA strain can not be approved as substrate for the preparation of attenuated viral vaccines. In summary, all strains of MDCK cell line have tunorigenicity, at least have low tumor igencity , never have non-cancinogenic MDCK, but very low tumorigenicity MDCK cell strains can certainly be used for the approval production of canine viral vaccines if the DNA content in viral cell cultures was remarkably decreased through conventional means in manufacturing process. Therefore, the master cell stock and working cell bank of MDCK line used for vaccine manufacture were established in China, which are free of infectious agents, and described with respect to cytogenetic characteristics and tumorigenicity.Tests showed that there were correlations among cell line chromosome number variations, anchorage independence in soft a-garose, haemagglutination under plant lectins, and tumor-forming ability in nude mice, thus all the in vitro tests are economic, simple and reliable means for monitoring the tumor-forming ability of MDCK line in nude mice.

Karyotype Analysis of <i>Ocimum basilicum</i>in South-Eastern Nigeria

Ocimum basilicum is widely distributed in the tropical and subtropical regions of the world, with greatest variability in Africa and India. It is valued in many countries for its culinary, medicinal, industrial and religious importance. Although cytogenetic entries on the plant have been made in other geographical locations of the world, in Nigeria, such entries, prior to this report, have been limited if not completely unavailable. In this analysis, axillary buds, obtained from growing plants, were used to conduct mitotic study. Results from this study showed chromosome counts of 2n = 48 and 60, thus bringing to light the existence of chromosome number variation and the possibility of polyploidy at different levels in the plant species in this agro-ecological zone. This research has, therefore, established that at least there are two cytotypes in the population of Ocimum basilicum growing in the humid forest vegetation zone of Nigeria. Analysis of the two cytotypes revealed asymmetrical karyotypes, indicative of advancement in the evolutionary trend of the plant species.

PRELIMINARY STUDY ON THE KARYOTYPE OF ARDEA PURPUCEA AND ARDEA CINEREA, CICONIIFORES

The karyotype of Ardea purpucea and Ardea cinerea, Ciconiifores, are presented in this paper. Chromosome preparations were made from bone marrow cells and stained with Giemsa.The diploid number of chromosome of Ardea purpucea and Ardea cinerea are 62 ± and 60 ±respectively. The numbers of macrochromosome of these two birds are same, namely 11 pairs. Among them,six pairs of macrochromosome are morphologically very similar between the two birds.

Karyotypes of nineteen species of Asteraceae in the Hengduan Mountains and adjacent regions

The Hengduan Mountains region is a biodiversity hotspot. In this study, we report the karyotypes of 19 species(21 populations) of Asteraceae from this region, 14 of which are reported for the first time. We also examined polyploidy in Asteraceae plants and summarized karyotype data in the literature for 69 congeneric taxa. In these genera, there were five different ploidy levels in the region, though the most dominant was diploid(73.08%). There is no direct evidence that ploidy level and karyotype asymmetry are associated with the distribution of recorded Asteraceae species from the Hengduan Mountains. This suggests that polyploidy(26.92%) may not play an important role in the evolutionary history of these plants, even though, among these genera, the ratio of paleopolyploidy was high(46.15%).

Comparative research on karyotype in three species of Arcidae

By air-dry method, the karyotype from gill cell in three clams of Bivalvia Pterimorphia Arcidae,Tegillarca granosa,Scapharca subcrenata and S.broughtonii,was studied. Their chromosome number (2n ) andfundamenod number (W) are equal to each other. But their karyotype is different. In T. granosa, it is 2n = 38,28m+ 10sml In S.subcrenata2n = 38, 14m + 22sm+ 2st, In S.broughtonii 2n = 38, 12m+ 20sm+ 6st. T.granosa has no subtelocentric (st) chromosome, S.subcrenata has one Pair and S. then has three paris of st.Middle centric (m) and submiddle centric chromosome are major type in karyotype of three species of Arcida; thelengths of chromosomes from the largest to the smallest changed gradually. The absolute length of the maximum chromosome in all three species do not exceed 5 μm and the minimum cluomonsome is about 2 μm. Inversion pericentricperhaps plays an important role in the evolution of chromosome. Hybridization among the three species of Arcidae ispossible.

Karyotype Comparison of F_1 and F_2 Hybrids of Sugarcane and Erianthus fulvus

Chromosome specimens of sugarcane, Erianthus fu/vus and their progenies were prepared with wall degradation hypotonic method to analyze the karyotypes of parents and Fl, F2 hybrids. The results showed that most chromosomes of experimental materials are median region （m） chromosomes, while only a small amount of chromosomes are submedian （sm） chromosomes. The karyotype of YAU04/102 belongs to 2C type, while other materials belong to 2B type. In addition, the karyotypes of hybrids are asymmetrical and the chromosomes of hybrids show an evolutionary trend compared with parental chromosomes.

Chromosomal Karyotypes of Medicinal Plant Gynura medica

[ Objective] This study aimed at investigating the chromosomal characteristics and karyotypes of Gynura medica. [ Method ] Stem tips of G. medica seedlings were taken every 20 min from 6：30 to 10：30 am, and then were treated and squashed. The slices were observed under a microscope for investigating the chromosomal number and karyotypes of the cells in metaphase in which the chromosomes were well dispersed. [ Result] In the total 102 stem tip cells in meta- phase, 96.08% of cells were with 20 chromosomes, and 3.92% of cells were with 40 chromosomes. Optimal time for sampling was from 7：50 to 9：30 am, when more cells were in metaphase. [Conclusion] C. medica is the diploid plant with 20 chromosomes. Karyotype analysis gets formula 2n = 2x = 20m, and all 10 pairs of chromosomes belong to type 1A. The article reporls the chromosomes characteristics of G. rnedica firstly.

Karyotype Analysis of BC_1 and BC_2 Progenies between Sugarcane and Erianthus fulvus

In this study, karyotype analysis of F2BCl progenies between sugarcane （Saccharum spp. ） and Erianthusfulvus was conducted. The result showed that most chromosomes of YAU04/14, YAU09/02, YAU09/05, YAU09/26 and YAU09/52 are median region （m） chromosomes, while only a small amount of chromosomes are submedian （sin） chromosomes and median point （M） chromosomes. The karyotype formulae of five experimental materials are 2n = 106 = 98m ＋ 8sm, 2n = 106 - 2M ＋ 104m, 2n = 106 = 4M ＋ 96m ＋ 6sin, 2n = 102 = 2M ＋ 92m ＋ 8sin and 2n = 106 = 4M ＋ 96m ＋ 6sin, respectively. The karyotypes of all materials belong to symmetrical 2B type, indicating that the chromosomes of progenies are primitive.

Karyotype Analysis of Rabdosia lophanthoides var. gerardianus and Rabdosia lophanthoides Hara var. graciliflorus Chromosomes

[ Objective] This study aimed to conduct the karyotype analysis of Rabdosia lophanthoides var. gerardians and R. lophanthoides Hara var. gracilifloruschromosomes. [ Method] Vigorously growing shoot tips of R. lophanthoides var. gerardianus and R. lophanthoides Hara var. graciliflorus were stained for section preparation to observe and analyze the chromosomes. [ Result] Karyotype formula of R. lophanthoides var. gerardianus is K （2n） =2x =24 = 18m ＋4Sm, sugges- ting that this species belongs to category 2A of Stebbins; karyotype formula of R. lophanthoides Hara var. graciliflorus is K （2n） =2x =24 = 16m ＋8Sm, sugges- ting that this species belongs to category 1B of Stebbins. [Conclusion] R. lophanthoides var. gerardianus is more primitive compared with R. lophanthoides Hara var. graciliflorus.

Hybrids between olive flounder Paralichthys olivaceus and stone flounder Kareius bicoloratus: karyotype,allozyme and RAPD analyses

The hybrid between olive flounder Paralichthys olivaceus and stone flounder Kareius bicoloratus was produced by artificial insemination of olive flounder eggs with stone flounder sperm. Sinistral and dextral are two types of hybrid progeny after metamorphosis. Karyotypes of both hybrid flounders are the same as those of the two parental species. Of the 22 loci examined from 12 allozymes, 12 confirmed hybridization of the paternal and maternal loci in hybrids and no difference was found in allozyme patterns of sinistral and dextral hybrid fishes. RAPD patterns of these specimens were also studied with 38 primers selected from 104 tested. Among them, the PCR products of 30 primers showed hybridization of the paternal and maternal bands. Genetic variation between hybrids and their parental stocks was analyzed by RAPD using 10 of the above 38 primers. The average heterozygosity and genetic distance were calculated. The results suggested that the filial generation could inherit a little more genetic materials from paternal fish than that from maternal fish.