• Clinical and Experimental Reproductive Medicine
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• v.49 no.2
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• pp.101-109
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• 2022

Objective: Y chromosome microdeletions are the second most common genetic cause of male infertility after Klinefelter syndrome. The aim of this study was to determine the patterns of Y chromosome microdeletions among infertile Mongolian men. Methods: A descriptive study was performed on 75 infertile men from February 2017 to December 2018. Y chromosome microdeletions were identified by polymerase chain reaction. Semen parameters, hormonal levels, and testis biopsy samples were examined. Results: Among 75 infertile men, two cases of Y chromosome microdeletions were identified. The first case had an AZFa complete deletion and the other had an AZFc partial deletion. This study found that the proportion of Y chromosome microdeletions among infertile Mongolian men was 2.66%. Conclusion: The findings can be applied to in vitro fertilization and assisted reproductive technology, and our results will help clinicians improve treatment management for infertile Mongolian couples.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.2
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• pp.63-67
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• 2007

A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

• Journal of Plant Biology
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• v.21 no.1_4
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• pp.29-32
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• 1978

The karyotype of Lilium cernum has been analysed by means of C-banding technique. Most of clones observed were 2n=24 chromosomes which consist of two pairs of submetacentric and ten pairs of subtelocentric chromosomes, among which two pairs of chromosomes(B and E) showed secondary constriction in the short arm. In addition to these chromosomes a small supernumerary telocentric chromosome was seen in the eight clones. Sixtyeight bands were observed in the twentytwo chromosomes of complement and one band in the supernumerary chromosome. A pair of chromosome (L) did not show any band. The bnads on the chromosome. A pair of chromosome (L) did not show any band. The bands on the chromosomes were distributed in the centromere, secondary constriction and intercalary regions of arms. Of the twelve pairs of chromosomes ten pairs showed symmetric banding patterns in each, but two pairs (I and K) showed asymmetric banding patterns.

• Korean Journal of Medicinal Crop Science
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• v.14 no.6
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• pp.354-359
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• 2006

Chromosome analysis using mitosis, meiosis and bicolor FISH were carried out in Bupleurum latissimum Nakai, which is one of the endemic plants in Ulleung island of korea. The somatic methaphase chromosomes number of this plant was 2n = 2x = 16 and the chromosome complements consisted of six pairs of metacentrics and two pairs of submetacentrics. The size of chromosomes ranged 2.40${\sim}$4.20 ${\mu}$m and NOR (nucleolus organizer region) chromosome did not observed using conventional staining. In meiosis chromosomes, metaphase-I and anaphase-I were observed. Metaphase-I anaphase-I showed 8 bivalents and chromosomes migration to make two daughter cells. Using bicolor FISH, one pair of 5S and 45S rDNA signals were detected on the centromeric region of chromosome 3 and the end of short of chromosome 2,respectively. We also observed the NOR using 45S rDNA probe.

• Biomedical Science Letters
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• v.15 no.4
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

• The Korean Journal of Zoology
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• v.33 no.2
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• pp.222-230
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• 1990

The karyotypes of Korean Sciunis vulgaris coreas and Tamias sibiricus asiaticus were analyzed by conventional Giemsa staining and C-banding method. The diploid chromosome number (2n) of Sciunis vulgaris coreae 40 consisting of 6 metacentric, 8 submetacentric, 3 subtelocentric and 2 telocentric autosome pairs, submetacentric X and acrocentric or subtelocentric Y chromosome. The arm number (NF) of this species was obtained as 72, excluding the gonosomal arms. Tamias sibiricus asiaticus has a 2n of 38. The karyotype was represented by 3 metacentric, 4 submetacentric, 5 subtelocentric and 6 telocentric autosome paits and 2 sex chromosome. The X chromosome was submetacentric chromosome and the Y was the smallest chromosome with a median. The NF was 60. In S. vulgaris coreae constitutive heterochromatins were observed at the centromeres and telomeres. Constitutive heterochnomatins of T sibiricus asiaticus were primarily observed at the centromeres. These results suggested that non-Robensonian reanagenents and distribution of constitutive heterochromatin played an imporiant role in karyological differentiation of these species.

• Proceedings of the Plant Resources Society of Korea Conference
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• 2019.10a
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• pp.25-25
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• 2019

Chromosome numbers and karyotypes in flowering plants have been considered to be prominent features in taxonomic and evolutionary context. Despite the increasing numbers of cytological studies in Asteraceae, karyotype analysis of Cirsium Mill. and Carddus L. in Korean population have not been performed carefully. In this study, the chromosome numbers and karyotype analysis of all eight species of the genus Cirsium Mill. and one species of Carddus L. were analyzed. While the chromosome number in Carduus crispus L. was diploid (2n = 2x = 18 or 18+2Bs) with x = 9 as the base chromosome number, all seven species of Cirsium were diploid with x = 17 except for Cirsium lineare (Thunb.) Sch. Bip. (x = 14). The chromosome number in C. pendulum Fisch. ex DC. presented 2n = 2x = 34 from two populations and C. lineare exhibited 2n = 2x = 28 from one population. Aneuploidy was occasionally found in C. japonicum Fisch. ex DC. var. spinossinum Kitam. (2n = 2x = 34, 35, 36), C. rhinoceros (H. $L{\acute{e}}v.$ & Vaniot) Nakai (2n = 2x = 32, 34), C. setidens (Dunn) Nakai (2n = 2x = 30, 31, 32) and C. vlassovianum Fisch. ex DC. (2n = 2x = 31, 32). While Cirsium japonicum Fisch. ex DC. var. japonicum possessed several B-chromosomes (2n = 2x = 34, 35, 36), polyploidy was only encountered in Cirsium nipponicum (Maxim.) Makino. (2n = 4x = 68) from two populations in Ulleung Island. The present cytological data might be contributed to the taxonomic and evolutionary studies in the genus Cirsium.

• The Journal of the Korea Contents Association
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• v.5 no.3
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• pp.29-35
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• 2005

The task for chromosome analysis and diagnosis by experienced cytogenetists are being concerned as repetitive, time consuming job and expensive. For that reason, intelligent agent based on chromosome knowledge base using web has been developed to be able to analyze chromosomes and obtain necessary advises from the knowledge base instead of human experts. That is to say, the knowledge base of IF THEN production rule was implemented to a knowledge domain with normal and abnormal chromosomes, and then the inference results by the knowledge base could enter the inference data into the database. Experimental data were composed of normal chromosomes of 2,736 cases and abnormal chromosomes of 259 cases that have been obtained from GTG-banding metaphase peripheral blood and amniotic fluid samples. The completed intelligent agent for the chromosome knowledge base provides variously morphological information by analysis of normal or abnormal chromosomes also has the advantage of being able to consult with the user on the chromosome analysis and diagnosis.

• Journal of Life Science
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• v.12 no.5
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• pp.605-609
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• 2002

None of the numerous published canine idiograms and karyotypes has yet been generally accepted as a standard one because the dog has 76 acrocentric autosomes of similar size and shape. To establish canine banded karyotype from the 22nd chromosome to the 37th chromosome, we analyzed canine chromosomes by GTG, high resolution, and NOR-banding techniques. The GTG and high resolution banding patterns of canine chromosomes corresponded to other reports described previously except for a few chromosomes. While other researchers observed 12 bands, we observed 7 bands in the banding patterns of chromosome 24, 34 and 37. On the other hand, the banding patterns by NOR-banding technique showed that three pairs of autosomes have nucleolus organizer regions at the terminal ends of their long arm, and the Y chromosome has it in its short arm terminal. However, the X chromosome has no nucleolus organizer like other mammals.

• Communications for Statistical Applications and Methods
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• v.13 no.1
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• pp.167-175
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• 2006

It has long been recognized that cancer is a genetic disease. To find this measures of genetic instability, stain cells with chromosome specific probes using chromosome in-situ hybridization technique is adopted. Even though in-situ hybridization technique is powerful, truncation of nuclei often results in under-representation of chromosome copies in slides due to the sectioning of tissue blocks. Because of this problem we suggest three different methods to analyze the cervical cancer data set. We observe that genetic instability is an increasing function of histology and our suggested model is the best in detecting genetic instability of tumorigenesis processes.