• Title, Summary, Keyword: karyotyping

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Computer-assisted Karyotyping System of Giemsa Stained Chromosomes (염색체 자동분류 시스템의 구현)

  • 조종만;홍승홍
    • Journal of Biomedical Engineering Research
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    • v.9 no.2
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    • pp.239-246
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    • 1988
  • This paper describes the design and implementation of personal computer assisted karyotyping system of Giemsa stained chromosomes. The system consists of an Image Acquisition Module being capable of $256 {\times} 256$ pixels and its relevent software modules optimized for karyotyping. The results of karyotyping using this system with an image of chromosomes taken from the Rana Amurensis are acceptable. As a result of this study we can save our load oweing to the conventional hand- karyotyping and the high-cost computer.

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Development of Semi-Automatic Karyotyping System Using Image Processing (화상처리를 이용한 반자동 핵형분석 시스템의 개발)

  • 김학경;강병철;박준형;서진호;김상봉
    • Journal of Institute of Control, Robotics and Systems
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    • v.9 no.10
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    • pp.844-851
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    • 2003
  • We introduces a development result of semi-automatic karyotyping system using image processing method to improve a long time working of the manual method and 5% error of traditional automatic karyotying system for analyzing karyotying. The karyotyping procedures have many routine tasks such as searching metaphases, taking pictures, developing, editing, etc. There are several automatic karyotyping systems in order to reduce the task in advanced countries. However, they are very expensive, applicable to only human chromosome, and have too many functions to use easily. This paper takes aim at high quality image resolution and development of interface that can adjust brightness and contrast of image on-line. The system can be applied to animal and plants as well as human's chromosome. The system developed in this paper is applied to pig and human. The effectiveness of the system is proved by hospitals in Korea.

Evaluating the results of the Momguard noninvasive prenatal test

  • Hu, Hae-Jin;Kwon, Young-Jun;Oh, Mijin;Kim, Jihun;Cho, Dae-Yeon;Seo, Dong-Hee
    • Journal of Genetic Medicine
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    • v.12 no.2
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    • pp.96-99
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    • 2015
  • Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.

소 배아의 Karyotyping과 Blastomere-PCR의 성별 분석의 비교

  • 장석민;신영민;이종호;박중훈;임경순;박창식;진동일
    • Proceedings of the KSAR Conference
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    • pp.292-292
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    • 2004
  • 배아의 성별 판별을 위해 할구를 biopsy하여 핵상에서 정밀 분석을 하였다. 이 실험에서는 8-에서 16-세포기 배아의 할구를 배아 성결정의 대표물로 사용하여 IVF소 배아를 분석 평가하였다. 55개의 배아를 PCT후 biopsy하여 분석하였다. PCR에 의한 성판별에서 biopsy한 single blastomere와 blastocyst의 성판별의 일치하는 비율은 80%인 것으로 나타났다. IVF 수정란을 염색체 상태에서 평가하기 위해 8- 16- 세포기의 할구를 Karyotyping 하였다. 할구의 Karyotyping을 위해 metaphase 상태에서 vinblastine sulfate에 계속적으로 노출시켜 metaphse Ⅱ 상태를 유도하였다. (중략)

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Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review

  • Park, Ji Eun;Park, Ji Kwon;Cho, In Ae;Baek, Jong Chul
    • Journal of Genetic Medicine
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    • v.15 no.1
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    • pp.43-47
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    • 2018
  • Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

  • Lee, Cha Gon;Yun, Jun-No;Park, Sang-Jin;Sohn, Young Bae
    • Journal of Genetic Medicine
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    • v.10 no.1
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    • pp.52-56
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    • 2013
  • Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

Comparison of Sexing Analysis between Karyotyping and Blasomere-PCR in Bovine embryos

  • Chang, Suk-Min;Lee, Jong-Ho;Park, Joong-Hoon;Park, Wha-Sik;Park, Chang-Sik;Jin, Dong-Il
    • Proceedings of the Korean Society of Developmental Biology Conference
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    • pp.92-92
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    • 2003
  • Accurate analysis of nuclear status is needed when biopsied-blastomeres are used for embryo sexing. In this study, the nuclear status of blastomeres derived from 8- to 16-cell stage IVF bovine embryos was analyzed to evaluate the representative of single blastomere for embryo sexing. When 55 embryos were analyzed by PCR following biopsy, the coincident rate of sex determination between biopsied-single blastomere and matched blastocyst by PCR was 80 %. Karyotyping of biastomeres in 8- 16-cell stage bovine embryos was conducted to assess chromosome status of IVF embryos. To establish karyotyping of blastomeres, concentrations of vinblastine sulfate and duration of exposure time for metaphase plate induction with 8- to 16-cell stage bovine embryos were tested. The most effective condition for induction of metaphase plate (>45%) was 1.0 ug/ml vinblastine sulfate treatment for 15 h. In 22 embryos under the condition, only 8 embryos out of ten that had a normal diploid chromosome complement showed a sex-chromosomal composition of XX or XY (36.4%) and 2 diploid embryos showed mosaicism of the opposite sex of XX and XY in blastomeres of embryo (9.1%). One haploid embryo contained only one X-chromosome (4.5%). Four out of the other 11 embryos having a mixoploid chromosomal complement contained haploid blastomere with wrong sex chromosome (18.2%). These results suggested that morphologically normal bovine embryos derived from IVF had considerable proportion of mixoploid and sex-chromosomal mosaicism which could be the cause of discrepancies of the sex between biopsied-single blastomere and matched blastocyst by PCR analysis.

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Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay

  • Lee, Kyung Yeon;Shin, Eunsim
    • Korean Journal of Pediatrics
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    • v.60 no.9
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    • pp.282-289
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    • 2017
  • Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.