• Journal of Yeungnam Medical Science
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• v.34 no.1
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• pp.80-83
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• 2017

A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came to the hospital with a main cause of bilateral buttock pain, which began two years ago and worsened seven days ago. Ankylosing spondylitis with invasion of both sacral-iliac joints was observed. On magnetic resonance imaging, although the uterus was observed normally, an ovary was not observed. In a chromosome test, balanced reciprocal X-1 translocation of 46,X,t(X;1)(p10;q10) was diagnosed. Here, we report on the first case involving ankylosing spondylitis accompanied by balanced reciprocal X-1 translocation.

• The Korean Journal of Zoology
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• v.8 no.2
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• pp.9-14
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• 1965

The frequency of reicprocal translocation damage in males of D. melanogaster irradiated with X-rays was observed in this study. The frequencies were checked at four periods with two days intervals and duration spermatogenesis after irradiation. (1) Modification in the percentage of the reciprocal translocation damage were not obtained at interval after irradiated with 500r and 1500r of X-rays respectively. (2) In two experimental groups irradiated with 50-0r and 1500r of X-rays, the frequencies showing in the spermatogenesis were 0.50%(500r), 3.85%(1500r) in mature sperm, and 1.59%, 8.10% in the spermatocyte. (3) The frequency of reciprocal translocation between the Y and 3 rd chromosomes was the highest, but in accordance with dosage increase that of 2nd and 3rd chromosomes relatively increased from 9.34 % to 30.49% while decreased from 68.75% to 46.80% in the group of the Y and 3 rd chromosomes. (4) It was supposed that these modifications of the frequency were due to heavy damage of the 2nd chromosomes than other chromosomes in accordance with dosage increase. (5) Spontaneous reciprocal translocations involving the Y, 2nd and 3rd chormosomes was 0.23%.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.475-481
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• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• Journal of Plant Biology
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• v.16 no.1_2
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• pp.39-50
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• 1973

The spontaneous and induced reciprocal translocations of chromosomes in higher plants were reviewed and discussion was made on the utilization of this chromosome aberration in the production of seedless hybrid seeds in vegetable crops.

• 대한생식의학회:학술대회논문집
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• 2006.06a
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• pp.165.2-165.2
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• 2006

• 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.

• Environmental Mutagens and Carcinogens
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• v.16 no.2
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• pp.88-96
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• 1996

Fluorescence in situ hybridization (FISH) with the DNA probe for human chromosome 4 was used to analyse in vitro radiation induced chromosome rearrangement in peripheral lymphocyte. Translocations, dicentrics, acentrics and color junctions involving the painted chromosome were scored according to the Protocol for Aberration Identification and Nomenclature Terminology (PAINT) system. The frequency of chromosome rearrangements including reciprocal translocation, dicentric, acentric fragment and color junction increased with radiation dose. The frequency of dicentric chromosome reduced by the fixation time following irradiation, whereas that of translocation was relatively persistent. The applicability of FISH for scoring stable translocation for biological dosimetry was demonstrated.

• Journal of Plant Biology
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• v.18 no.4
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• pp.139-142
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• 1975

The rye strain 72-1 derived from the cross between ♀(OB, normal)$\times$♂(2B, Ⅵ＋and Ⅵ-) were investigated. It was found that (Ⅵ＋, Ⅵ-), Ⅵ＋, Ⅵ- were segregated and the frequency of quadrivalent per PMC were varied in different plants. The frequency of transmission of B chromosome to the strain 72-1 showed 61.9%. The plnat 72-1-15 was found to be trisomic together with 2 B chromosomes.

• Clinical and Experimental Reproductive Medicine
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• v.32 no.2
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• pp.113-119
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• 2005

Objective: The purposes of this study were to investigate the types and the incidences of chromosomal abnormalities, and to provide an explanation for the genetic causations of recurrent spontaneous abortions in Korean population. Methods: Cytogenetic studies were carried out in 535 couples with at least two spontaneous first trimester abortions from January 1981 to December 2003. For karyotype analysis, we used modified Moorhead method by Giemsa staining and Giemsa-Trypsin-Giemsa banding Results: The overall incidence of chromosome abnormality was 32 out of 535 cases (5.98%). There were 25 cases (4.67%) of translocation and 7 cases (1.31%) of inversion. In translocation, 5 cases (0.93%) of Robertsonian translocation and 20 cases (3.74%) of reciprocal translocation were observed. In inversion, 6 cases (1.12%) of inversion of chromosome 9 and one case (0.19%) of inversion of chromosome 18 were found. Conclusion: In this study, overall chromosomal abnormality rate in couples with recurrent spontaneous abortions is much higher than that in the general population. So, chromosomal analysis should be offered for the prognostic information in genetic counseling such as prenatal diagnosis in couples with repetitive reproductive failure.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.9
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• pp.3793-3797
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• 2015

Background: Chronic myeloid leukemia (CML) is a myeloproliferative disorder of pluripotent stem cells, caused by reciprocal translocation between the long arms of chromosomes 9 and 22, t(9;22)(q34;q11), known as the Philadelphia chromosome. Materials and Methods: A total of 51 CML patients were recruited in this study. Complete blood counts of all CML patients were performed to find out their total leukocytes, hemoglobin and platelets. FISH was performed for the detection of BCR-ABL fusion and cryptogenic tests using bone marrow samples were performed for the conformation of Ph (9;22)(q34;q11) and variant translocation mechanisms. Results: In cytogenetic analysis we observed that out of 51 CML patients 40 (88.9%) were Ph positive and 4 (8.88%) had Ph negative chromosomes. Mean values of WBC 134.5 $10^3/{\mu}l$, hemoglobin 10.44 mg/dl, and platelets 288.6 $10^3/{\mu}l$ were observed in this study. Conclusions: In this study, Ph positive translocation between chromosome (9:22)(q34;q11) were observed in 40 (88.9%) CML patients.