• Journal of Interdisciplinary Genomics
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• v.6 no.1
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• pp.1-5
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• 2024

Chromosome 22 is an acrocentric chromosome containing 500-600 genes, representing 1.5%-2% of the total DNA in cells. It was the first human chromosome to be fully sequenced by the Human Genome Project. Several syndromes involving the partial deletion or duplication of chromosome 22 are well descibed, including 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q11.2 distal deletion syndrome, Phelan-McDermid syndrome caused by a 22q13 deletion or pathogenic variant in SHANK3, and cat-eye syndrome caused by a 22 pter-q11 duplication. This review aims to provide concise information on the clinical characteristics of these syndromes. In particular, the similarities in features among these syndromes, genetic basis, and standard detection techniques are described, providing guidance for diagnosis and genetic counselling.

• Korean Journal of Plant Taxonomy
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• v.51 no.3
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• pp.192-197
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• 2021

In the flora of Korea, Carex L. is one of the most species-rich genera. Among nearly 157 Carex taxa, less than 30 have had chromosome numbers reported. We report the meiotic chromosome numbers of eight Carex taxa from Korean populations, which include the first count for C. accrescens Ohwi (n = 37_II) and the first chromosome investigations of Korea populations for three taxa: C. bostrychostigma Maxim. (n = 22_II), C. lanceolata Boott (n = 36_II), and C. paxii Kuk. (n = 38_II). In most species, chromosome counts observed in the study are included in the variation ranges of previous chromosome numbers. However, C. bostrychostigma Maxim. (n = 22_II) and C. planiculmis Kom. (n = 29_II) are assigned new chromosome numbers. Carex is known to have holocentric chromosomes, lacking visible primary constrictions and exhibiting great variance in its chromosome number. Further investigations of the diversity of Carex chromosomes will provide basic information with which to understand the high species diversity of the genus.

• The Korean Journal of Zoology
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• v.6 no.2
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• pp.21-27
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• 1963

This study is concerned with alterations in chromosomes (numbers and morphology) when the culture of Chinese hamster cells (FAF-28 strain) was treated by steroids, testosterone and DOC. 1. In 200 cells of normal untreated cells as control population the chromosome of stemline was decided as which was contained in 158 cells ; that is , in 79 percent of the population. The average chromosome number in above 20 cells observed was calculated as 23.95 with minimum limit at 20 and maximum limit at 70. 2. Many different chromosome numbers, ranging from 19 to 352 were observed in the 200 cells treated by testosterone. The diploid number of 22 showed the peak of variation curve was counted in 71 cells (35.5%) and an average chromosome number of stemline was 22 which was counted in 74 cells (37%). While all of the chromosome number of stemline was 22 which was counted in 74 cells (37%). While all of the chromosome numbers in the 200 cells observed ranged from 20 to 181 , an average chromosome number was also found to be 30.09. 4. The chromosome component in the cultured normal FAF-28 cells with 22 diploid chromosomeswas as follows ; 9a) 2 paris were long and metacentric (LM), (b) 3 pairs were medium length and metacentric (MM), (c) 3 pairs were small and subtelocentric (SS) and (d) 3 pairs were small and metacentric (SM). 5. The twenty cells with 44 chromosomes were selected at random from each cell population treated with testosterone and DOC , so that chromosome idiogram and morphology could be studies. In the twenty cells of the testosterone treated population the average ratio of above four groups, LM ; MM;Ss:SM, was found to be 8.6 : 10.8:13.5:10.7. On the other hand, the average ratio in the same number of cells of the DOC treated one was 7.7 :11.4:12.5:12.7. 6. The five types of the altered chromosomes morphologically in the hundred cells selected at random from each cell population treated by testosterone and DOC were observed (Type I-V). The thirty-one altered chromosomes were found to be in the testosterone treated cell population and the sixteen in DOC treated.

• Clinical and Experimental Pediatrics
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• v.57 no.7
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• Korean Journal of Plant Taxonomy
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• v.39 no.1
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• pp.42-47
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• 2009

In this study, the somatic chromosome of 14 taxa of Korean Galium L. were investigated. Among them were a few taxa for which the somatic chromosome number was determined for the first time. The somatic chromosome numbers of Korean Galium L. were 2n = 22, 24, 44, 48, 66, 72, 77, 88 and so basic chromosome numbers were x = 11 or 12. Those taxa having the basic chromosome number x = 11 showed polyploidy, including diploid, tetraploid, heptaploid, and octoploid. Tetraploid and hexaploid can be observed in those taxa with the basic number x = 12. The eleven taxa reported 11 for the first time are G. spurium var. echinospermon (Wallr.) Hayek (2n = 44), G. gracilens (A. Gray) Makino (2n = 22), G. pogonanthum Franch. & Sav. (2n = 22, 44), G. trachyspermum A. Gray (2n = 22, 44), G. japonicum (Maxim.) Makino & Nakai (2n = 77), G. trifloriforme Kom. (2n = 44), G. dahuricum Turcz. var. dahuricum (2n = 48, 72), G. dahuricum var. tokyoense (Makino) Cufod. (2n = 22), G. kinuta Nakai & Hara (2n=66), G. verum var. trachycarpum for. nikkoense (Nakai) Ohwi (2n = 44), G. verum var. asiaticum for. pusillum (Nakai) M. Park (2n = 44). The taxa with the same chromosome numbers as previously reported ones were G. boreale L. (2n=22) and G. verum var. asiaticum Nakai for. asiaticum (2n = 44). The chromosome number of G. trifidum L. (2n = 22) was different from the previous report. Two infraspecific taxa of G. dahuricum showed differences in their basic chromosome numbers (x = 11 for G. dahuricum Turcz. var. dahuricum and x = 12 for var. tokyoense (Makino) Cufod. The somatic chromosome number for G. dahuricum Turcz. var. dahuricum was found to be 2n = 48 (tetraploid) or 72 (hexaploid), while that of G. dahuricum var. tokyoense (Makino) Cufod. was found to be 2n = 22 (diploid). Therefore, basic chromosome numbers for members of the genus Galium can be used as valuable characters in delimiting infrageneric sections and investigating interspecific relationships.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2003.10a
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• pp.183-192
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• 2003

With the availability of complete whole-genomes such as the human, mouse, fugu and chimpanzee chromosome 22, comparative analysis of large genomes from cross-species at varying evolutionary distances is considered one of a powerful approach for identifying coding and functional non-coding sequences. Here we describe a fast and efficient global alignment method especially for large genomic regions over mega bases pair. We used an approach for identifying all similarity regions by HSP (Highest Segment Pair) regions using local alignments and then large syntenic genome based on the both extension of anchors at HSP regions in two species and global conservation map. Using this alignment approach, we examined rearrangement loci in human chromosome 21 and chimpanzee chromosome 22. Finally, we extracted syntenic genome 30 Mb of human chromosome 21 with chimpanzee chromosome 22, and then identified genomic rearrangements (deletions and insertions ranging h size from 0.3 to 200 kb). Our experiment shows that all jnsertion/deletion (indel) events in excess of 300 bp within chimpanzee chromosome 22 and human chromosome 21 alignments in order to identify new insertions that had occurred over the last 7 million years of evolution. Finally we also discussed evolutionary features throughout comparative analyses of Ka/ks (non-synonymous / synonymous substitutions) rate in orthologous 119 genes of chromosome 21 and 53 genes of MHC-I class in human and chimpanzee genome.

• Clinical and Experimental Pediatrics
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• v.58 no.8
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• pp.313-316
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• 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

• The Korean Journal of Zoology
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• v.7 no.1
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• pp.29-32
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• 1964

A study on chromosome of leucocytes in blood cultures derived from 6 normal Korean was performed . Exact chromosome counts were carried out on 205 cells in male, 211 in female , of which 86.05% revealed a chormosome mordal number of 46. On the basis of relative chromosome lengths and position of centromeres, the Karyotype that the human chromosomes were classified into 7 groups with 22 airs of autosome and one pair of sex chromosome was determined accoridng to the method of denver report. The chromosome number on metaphase was observed in short term cultures of leucocytes from the peripheral blood of 2 patients with chronic granulocytic leukemia and 1 patient with acute granulocitic leukemia . and the chromosome morpholoogy was also investigated in one acute leukemic patient. In all leukemic cases the leucocytes showed the constant value of 46 in the stem -line of chormosome number. But the frequency of cells with 46 chromosomes appeared in the 3 cases was 67.30% in average with a slightly higher range in hypo-andhyper-diploid chromosome numbers than in normal human, The idiogram analysis did not show any abnormality of chromosome in acute leukemic cells.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.58-61
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• 2011

Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.

• Korean Journal of Medicinal Crop Science
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• v.10 no.2
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• pp.144-146
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• 2002

Cytogenetic analysis of Anemarrhena ashodeloides BUNGE, which is one of medicinal plants belonging to Haemodoraceae was carried out using Feulgen staining. The somatic metaphase chromosome number was identified to 2n=22 (x=11) and the size of chromosomes ranges from $1.27-3.80\;{\mu}m$. Three pairs of chromosomes were relatively long in total length and the others were short. The karyotype was bimodal in chromosome length and arm ratios. The chromosome complement comprise eight pairs of metacentric (chromosome 2, 3, 6, 7, 8, 9, 10, and 11), two pairs of submetacentric (chromosome 4 and 5), and one pair of subtelocentric (chromosome 1).