• 한국동물학회:학술대회논문집
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• 한국동물학회 1994년도 한국생물과학협회 학술발표대회
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• pp.231.2-231
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• 1994

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• Asian Pacific Journal of Cancer Prevention
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• 제15권21호
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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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• 제59권2호
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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.

• 한국약용작물학회지
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• 제11권4호
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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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• 제13권2호
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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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• 제19권1호
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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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• 제37권3호
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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.

• 한국약용작물학회지
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• 제13권1호
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• pp.48-51
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• 2005

보호식물이며, 약용식물인 깽깽이풀 (Jeffersonia dubia)을 대상으로 핵형 분석과 McFISH 기법을 이용한 염색체 분석을 수행하여 다음과 같은 결과를 얻었다. 체세포 염색체 수는 2n=2x=12였으며, 2쌍의 중부 염색체 (염색체 1, 3), 2쌍의 차중부 염색체 (염색체 2, 4) 그리고 2쌍의 차단부 염색체 (염색체 5, 6)로 구분되었고, 염색체의 평균 길이는 $1.95{\sim}3.50{\mu}M$이었다. McFISH기법을 이용하여 45S와 5S rDNA의 염색체상의 위치를 확인한 바, 3쌍의 45S rDNA signal은 4번, 5번 그리고 6번 염색체의 단완 말단 부위에서 관찰되었고, 한 쌍의 5S rDNA signal은 2번 염색체의 동원체 부위에서 관찰되었다.

• Journal of Plant Biotechnology
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• 제30권1호
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• pp.7-11
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• 2003

2배체 담배인 Nicotiana plumbaginifolia를 대상으로 상염색법과 FISH 기법을 통한 염색체 분석을 수행하여 다음과 같은 결과를 얻었다. N. plumbaginifolia의 체세포 염색체 수는 2n=20이며, arm ratio 비교를 통한 핵형 분석에서 중기 염색체 조성은 3쌍의 중부 염색체 (염색체 1,2 및 7)와 7쌍의 차중부 염색체 (염색체 3, 4, 5, 6, 7, 9 및 10)로 관찰되었다. 염색체의 길이는 2.29~4.50 $\mu\textrm{m}$로 나타났으며, 염색체 1번과 2번은 부수체 염색체로 관찰되었다. 5S와 45S rDNA를 탐침으로 FISH를 수행한 결과 2번 염색체의 동원체 부위에서 한 쌍의 5S signal이 확인되었고, 1번 염색체의 부수체에서 한 쌍의 45S signal이 관찰되었다.

• 한국산림과학회지
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• 제75권1호
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• pp.38-45
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• 1986

본 연구는 Juniperus chinensis 의 7 varieties와 Pinus densiflora의 한 변종에 대한 karyotype analysis의 결과로 다음과 같은 성적을 얻었다. 1) J. chinensis v. kaizuka, J. chinensis v. aureo-variegata와 J. chinensis v. procumbens 는 tetraploid 이다. 2) 각 수종의 염색체에 있어 긴 평균장과 긴 염색체를 많이 가지고 있는 수종은 J. chinensis와 J. chinensis v. aureo-globosa 이고 그 반대로 짧은 평균장과, 짧은 염색체를 가진 수종은 J. chinensis v. horizontalis 와 J. chinensis v. globosa 이다. 3) 각 염색체의 short arm에 대한 long arm의 평균비치가 큰 수종은 J. chinensis v. globosa 와 J. chinensis v. kaizuka 이고, 작은 수종은 J. chinensis v. aureo-globosa이다. 4) 염색체를 긴 순서로 배열할 때의 배열순서가 J. chinensis 의 배열상과 가장 근사한 수종은 J. chinensis v. sargentii, J. chinensis v. horizontalis, J. chinensis v. globosa 와 J. chinensis v. aureo-globosa이며, J. chinensis v. procumbens 는 배열상이 가장 다르다. 5) Pinus densiflora for. multicaulis는 염색체 평균장이 짧고, arm ratio 는 크다. 6) 염색체를 긴 순서로 배열할 시의 longarm 과 short arm의 배열순서가 6본의 염색체에서 같이 나타난다. 7) P. densiflora for. multicaulis는 secondary constriction이 많은 염색체에서 나타난다.