• Proceedings of the Zoological Society Korea Conference
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• 1994.10a
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• pp.231.2-231
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• 1994

No Abstract, See Full Text

• 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.

• Korean Journal of Medicinal Crop Science
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• v.11 no.4
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• pp.311-315
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• 2003

This study was carried out to compare chromosomal characteristics between Atractylodes japonica and A macrocephala. Cytogenetic analysis was conducted based on karyotype analysis and physical mapping using fluorescence in situ hybridization. As a result of karyotype analysis by feulgen staining, somatic chromosome numbers of A. japonica and A. macrocephala were 2n=24. The length. of the mitotic metaphase chromosomes of A. japonica ranged from $0.70\;to\;1.60{\mu}m$ with a total length. of $12.11{\mu}m$ and the homologous chromosome complement comprised six metacentrics, five submetacentrics and one subtelocentrics. On the other hand, the length of the mitotic metaphase chromosomes of A. macrocephala ranged from $0.90\;to\;2.35{\mu}m$ with a total length of $16.58{\mu}m$ and the homologous chromosome complement comprised seven metacentrics and five submetacentrics. The total length of A. japonica chromosomes was shorter than that of A. macrocephala, but A. japonica had one subtelocentrics (chromosomes 4) different from A. macrocepha1a. chromosomes. The F1SH technique using 17S and 5S rDNA was applied to metaphase chromosomes. The signals for 17S rDNA were detected on the telomeric regions of chromosomes 4 and 5 in both A japonica and A. macrocephala. The 5S rDNA signal was found in the short arm of chromosome 1.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.95-98
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• 2016

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.14-21
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• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• Reproductive and Developmental Biology
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• v.37 no.3
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• pp.161-167
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• 2013

The karyotype of Korean short-hair cat was presented using the G-, C- and NOR-banding techniques. For chromosomes preparation, the fetus skin fibroblast cells were cultured and metaphases were obtained. In results, the Korean short-hair cat had 38 chromosomes with XX or XY, which consisted of 5 pairs of metacentric chromosomes(Group A and C), 3 pairs of submetacentric chromosomes (Group B), 6 pairs of medium metacentric chromosomes except for 1 pair of medium submetacentric D2 chromosomes (Group D, E), 2 pairs of acrocentric chromosomes(Group F) and metacentric X and Y sex chromosomes. In G-banding analysis, the Korean short-hair cat exhibited a typical and identical G-banding pattern in each homologous chromosome. Total number of bands and landmarks on the G-banded chromosomes of Korean short-hair cat well correspond to those of international standardization of karyotype of domestic cat. The heterochromatins of Korean short-hair cat chromosomes distributed at terminal and/or centromere regions on almost chromosomes by C-banding analysis. In addition, the C-banding pattern showed greatly heteromorphic in some chromosomes. Using the AgNOR-staining, we found the nucleolar organizer regions(NORs) of Korean short-hair cat located at chromosomes 1p12 site in E group. The quantity and number of NORs were constant among cells.

• Korean Journal of Medicinal Crop Science
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• v.13 no.1
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• pp.48-51
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• 2005

Karyotype analysis and chromosomal locailization of 45S and 5S rDNAs using McFISH (multi-color fluorescence in situ hybridization) were carried out in Jeffersonia dubia Benth., which is one of medicinal plants belonging to Berberidaceae. The somatic metaphase chromosome number was 2n=2x=12 and the size of chromosomes ranged $1.95{\sim}3.50\;{\mu}m$. The chromosome complement consisted of two pairs of metacentrics (chromosomes 1 and 3), two pairs of submetacentrics (chromosomes 2 and 4) and two pairs of subtelocentrics (chromosomes 5 and 6). In McFISH, one pair of 45S rDNA site was detected on the centromeric region of chromosome 2 and three pairs of 5S rDNA sites were detected on the short arm of chromosomes 4, 5 and 6, respectively.

• Journal of Plant Biotechnology
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• v.30 no.1
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• pp.7-11
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• 2003

Karyotype analysis and chromosomal localization of 5S and 45S rDNAs using FISH (fluorescence in situ hybridization) technique were carried out in Nicotiana plumbaginifolia. Somatic chromosome number of N. plumbaginifolia was 2n=20 and kyarotype was composed of three pairs of metacentric chromosomes (1,2 and 7) and seven pairs of submetacentric chromosomes (3, 4, 5, 6, 8, 9 and 10). Length of chromosomes was ranged from 2.29 to 4.50 ${\mu}{\textrm}{m}$. Chromosome 1 and 2 were identified as satellite chromosomes. In FISH experiment, one pair of 5S rDNA signals was detected on the centromeric region of chromosome 2 and one pair of 45S rDNA signals was detected on the terminal region of chromosome 1.

• Journal of Korean Society of Forest Science
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• v.75 no.1
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• pp.38-45
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• 1986

This study was designed to investigate the karyotype analysis of Juniperus chinensis and its seven varieties, and P. densiflora and P. densiflora for. multicaulis. Following results were obtained. 1. Three varieties, J. chinensis v. kaizuka, J. chinensis v. aureo-variegata and J. chinensis v. procumbens are turned out as tetraploids. 2. Varieties having many long chromosomes and long mean relative length of chromosomes are J. chinensis and J. chinensis v. aureo-globosa, while varieties having short chromosomes are J. chinensis v. horizontalis and J. chinensis v. globosa. 3. Varieties with high mean ratio of long arm length to short arm are J. chinensis v. globosa and J. chinensis v. kaizuka, while a variety with the low mean ratio is J. chinensis v. aureo-globosa. 4. When chromosomes are arranged according to the total length, the most similar variety with J. chinensis was J. chinensis v. sargentii, J. chinensis v. horizontalis, J. chinensis v. globosa and J. chinensis v. aureo-globosa, while the least similar one was J. chinensis v. procumbens. 5. Pinus densiflora for. multicaulis has shorter mean relative length of chromosome than P. densiflora, while the arm ratio of the former is higher than the latter. 6. When chromosomes are arranged according to the total length, six chromosomes showed the same order between the two varieties. 7. P. densiflora for. multicaulis has many chromosomes with secondary constriction.