• Asian Pacific Journal of Cancer Prevention
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• v.15 no.21
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• pp.9495-9498
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• 2014

Background: The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in cytogenetic abnormalities with age groups. Cytogenetic analysis in acute leukemia is now routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of the patients. Aim and Objectives: To determine the frequency of cytogenetic abnormalities in Pakistani adult patients with ALL in order to have insights regarding behavior of the disease. Materials and Methods: A retrospective analysis of all the cases of ALL (${\geq}15$years old) diagnosed at Aga Khan University from January 2006 to June 2014 was performed. Phenotype (B/T lineage) was confirmed in all cases by flow cytometry. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria. Results: A total of 166 patients were diagnosed as ALL during the study period, of which 151 samples successfully yielded metaphase chromosomes. The male to female ratio was 3.4:1. The majority (n=120, 72.3%) had a B-cell phenotype. A normal karyotype was present in 51% (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years. Conclusions: This study showed a relatively low prevalence of Philadelphia chromosome in Pakistani adults with ALL with an increase in frequency with age (p=0.003). The cumulative prevalence of Philadelphianegative poor cytogenetic aberrations in different age groups was not significant (p=0.6).

• Clinical and Experimental Pediatrics
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• v.59 no.2
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• pp.91-95
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• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.62-66
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• 2009

Purpose: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. Materials and Methods: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. Results: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was $34.3{\pm}3.3$. Conclusion: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.

• Journal of Genetic Medicine
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• v.14 no.2
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• pp.62-66
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• 2017

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

• 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.

• Korean Journal of Ichthyology
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• v.24 no.1
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• pp.1-10
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• 2012

Reciprocal hybrids between the mud loach ($Misgurnus$ $mizolepis$) and cyprinid loach ($M.$ $anguillicaudatus$) were produced by artificial fertilization. The chromosome number of mud loach was 2n=48, consisting of 12M+4SM+32A chromosomes. The cyprinid loach has 2n=50, consisting of 10M+4SM+36A chromosomes. The chromosome numbers of the diploid reciprocal hybrids were 2n=49, consisting of 11M+4SM+34A chromosomes. All the karyotypes documented in this study had the same arm number of 64. There was no evidence of chromosomal polymorphisms or sex-related heteromorphism. The cytogenetic traits of the hybrid genotypes were intermediate between those of the parent species. In all genotypes, the chromosomal NORs localized to the terminal short arms of the same metacentric chromosome pair. These results suggest that Robertsonian translocation occurred between metacentric chromosome 1 of mud loach and acrocentric chromosome of cyprinid loach.

• Proceedings of the Korean Society of Crop Science Conference
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• 1999.05a
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• pp.162-163
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• 1999

The goal of this research was (1) to describe the conditions and parameters required for the cell cycle synchronization and the accumulation of large number of metaphase cells in maize and other cereal root tips, (2) to isolate intact metaphase chromosomes from root tips suitable for characterization by flow cytometry, and (3) to construct chromosome-specific libraries from maize. Plant metaphase chromosomes have been successfully synchronized and isolated from many cereal root-tips. DNA synthesis inhibitor (hydroxyurea) was used to synchronize cell cycle, follwed by treatement with trifluralin to accumulate metaphase chromosomes. Maize flow karyotypes show substantial variation among inbred lines. thish variation should be sueful in isolating individual chromosome types. In addition, flow cytometry is a useful method to measure DNA content of individual chromosomes in a genotyps, and to detect chromosomal variations. Individual chromosome peaks have been sorted from the maize hybrid B73/Mol7. Libraries were generated form the DOP-PCR amplification product from each peak. To date, we have analyzed clones from a library constructed from the maize chromosome 1 peak. Hybridization of labeled genomic DNA to clone inserts indicated that $24\%,\;18\%,\;and\;58\%$ of the clones were highly repetitive, medium repetitive, and low copy, respectively. Fifty percent of putative low cpoy clones showed single bands on inbred screening, blots, and the remaining $50\%$ were low copy repeats. Single copy clones showing polymorphism will be mapped using recombinant inbred mapping populations. Repetitive clones are being characterized by Southern blot analysis, and will be screened by in situ hybridization for their potential utility as chromosome specific markers.

• Korean Journal of Fisheries and Aquatic Sciences
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• v.43 no.5
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• pp.462-473
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• 2010

Inductions of hybrids and reciprocal hybrids between Oryzias dancena and O. javanicus (ODJ and OJD) were conducted and backcross hybrids between female O. dancena and male ODJ were also produced for biological and cytogenetic analysis. Embryonic development of ODJ and OJD were compared with those of their parents. Developmental time was fastest in O. dancena and ODJ, followed by O. javanicus and OJD. Oryzias dancena hatched 11 days (d) after fertilization, ODJ at 13 d, O. javanicus at 14 d and OJD at 15 d. The abnormality of external morphology rate in ODJ was 10.6%; however, OJD showed a high degree of abnormality, over 90%. The proportion of males was 90.0% and 31.3% for ODJ and OJD, respectively. Cytogenetic analysis was conducted to obtain basic information for genetic identification of O. dancena, O. javanicus and their hybrids. The karyotypes of all experimental groups showed 2n=48 chromosomes and the fundamental number (FN) was 48. The first pair carried secondary constrictions near the centromeric regions. Erythrocyte area and volume were $9.8\;{\pm}\;0.5\;{\mu}m^2$ and $18.2\;{\pm}\;1.0\;{\mu}m^3$, respectively, for O. dancena, $8.3\;{\pm}\;0.5\;{\mu}m^2$ and $15.8\;{\pm}\;1.5\;{\mu}m^3$ in O. javanicus, and $18.3\;{\pm}\;0.5\;{\mu}m^2$ and $15.7\;{\pm}\;1.3\;{\mu}m^3$ in ODJ. Erythrocyte area and volume in ODJ were similar to those of O. javanicus. In backcross hybrids between female O. dancena and male ODJ, all embryos failed to develop and died in the late gastrula stage.

• The Korean Journal of Zoology
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• v.16 no.2
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• pp.97-108
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• 1973

Karyological characteristics and relative DNA values were investigated in four species of the family Cyprinidae of Korean fresh-water. The results obtained were as follows; 1) The two Hemibarus species, H. longirostris and H. labeo, had the aiploid chromosome number of 50. The compliment of former consisted of 7 metacentric, 14 submets- and subtelocentric and 4 telo- or acrocentric pairs, whereas latter had 9, 11 and 5 pairs respectively, Total arm numbers (AN) were 92 and 90. 2) In the case of two species of genus Moroce, M. oxycephalus and M. lagowskii, their diploid number and karyotype showed in identical pattern for each other (2n=50); 6 pairs of metacentrics, 14 pairs of submeta- and subtelocentrics and 5 pairs of telo- or acrocentrics. The AN of both species were 90. 3) Relative DNA values of all species were measured as about 60% that of gold fish. From the above observation, the cytogenetical character was discussed with special concern to the phylogenetic significance.

• Molecules and Cells
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• v.19 no.1
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• pp.31-38
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• 2005

Human embryonic stem (hES) cells have unique features including unlimited growth capacity, expression of specific markers, normal karyotypes and an ability to differentiate. Many investigators have tried to use hES cells for cell-based therapy, but there is little information about the properties of available hES cell lines. We compared the characteristics of three hES cell lines. The expression of SSEA-1, -3, -4, and APase, was examined by immunocytochemistry, and Oct-4 expression was analyzed by RT-PCR. Differentiation of the hES cells in vitro and in vivo led to the formation of embryoid bodies (EBs) or teratomas. We examined the expression of tissue-specific markers in the differentiated cells by semiquantitative RT-PCR, and the ability of each hES cell line to proliferate was measured by flow cytometry of DNA content and ELISA. The three hES cell lines were similar in morphology, marker expression, and teratoma formation. However there were significant differences (P < 0.05) between the differentiated cells formed by the different cell lines in levels of expression of tissue-specific markers such as renin, kallikrein, Glut-2, ${\beta}-$ and ${\delta}-globin$, albumin, and ${\alpha}1-antitrypsin$ (${\alpha}1-AT$). The hES cell lines also differed in proliferative activity. Our observations should be useful in basic and clinical hES cell research.