1.The Study for Fetal Karyotyping of spntaneous Abortions on Early Pregnancy.
Min Yeon KWON ; So Young WOO ; Sook Kyung YUN ; Ji Young LEE ; Zong Soo MOON ; Soo Hyung SEO ; Yang Suh PARK
Korean Journal of Perinatology 2000;11(3):320-329
No abstract available.
Karyotyping*
;
Pregnancy*
2.Application of spectral karyotyping in leukemia--review.
Bo GUO ; Wan-Ming DA ; Xiao-Ping HAN
Journal of Experimental Hematology 2006;14(3):619-622
Spectral karyotyping (SKY) is a novel cytogenetic technique, has been developed to unambiguously display and identify all 24 human chromosomes at one time without a priori knowledge of any abnormalities involved. SKY discerns the aberrations that can not be detected very well by conventional banding technique and fluorescent in situ hybridization (FISH). So SKY is hyper-accurate, hypersensitive, and hyper-intuitional. In this paper the basic principle of SKY technique and its application in leukemia cytogenetics were reviewed.
Humans
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Karyotyping
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Leukemia
;
genetics
;
pathology
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Spectral Karyotyping
3.Complete Androgen Insensitivity in two Filipino siblings: A case report
Vanessa S. Ediza ; Alistair Kashmir C. De la Cruz ; Mae Rhea Lim-Pacoli ; Albert L. Chu
Philippine Journal of Internal Medicine 2021;59(4):327-334
Androgen insensitivity syndrome is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in a chromosomally male individual. We describe two phenotypically female siblings aged 27 and 18 years, who presented with primary amenorrhea. The older sibling first consulted because of her desire to be pregnant while her younger sibling consulted upon the physician’s advice. Clinical presentation, physical examination, hormonal and imaging studies and a male (46XY) karyotype confirmed the diagnosis of Complete Androgen Insensitivity Syndrome (AIS) in both individuals. Both of them underwent exploratory laparotomy with histopathology confirming presence of immature testicular tissue. Hormone replacement therapy was then started. Both were advised to undergo psychosocial counseling and both chose to be women. This case report is significant since there are only a few local case reports about siblings presenting with this condition.
Androgen-Insensitivity Syndrome
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Karyotyping
4.Use of Korean Letter "Hangul" and Special Characters in a Chromosome Image Analyzer, QuipsTM 3.0 Operable Only in Mac OS 8.0.
Key Earn LEE ; Do Sim PARK ; Young Jin LEE
Korean Journal of Clinical Pathology 1998;18(4):685-690
BACKGROUND: Nowadays, many laboratories use computer and karyotyping software in chromosome analysis on the development of computer and digital imaging technology. And some of these softwares, such as QuipsTM (Vysis, USA; QuipsTM), are those operated in Macintosh operating system (Mac OS) because it had been considered superior to IBM PC in imaging works. However, Korean users have had difficulties in use of Korean letter "Hangul" because many of these hadn't been operated in Korean Macintosh System (KH series). METHODS: We used a karyotyping software of Macintosh QuipsTM 3.0, which is inconvenient to manage patient informations such as name, department, doctor's name and etc. In order to use "Hangul" in QuipsTM 3.0, we incorporated some files (WorldScript II and ScriptSwitcher 8 along with other files such as fonts, "Imrykki" and etc.) from KH 8.0 (Elex, Co; Korean Macintosh system) to Mac OS 8.0 (Apple, Inc; English Macintosh system). RESULTS: After modifing the operating system of Mac OS 8.0, we could use not only "Hangul", but also Chinese letter "Hanja" and special characters (e.g., "alpha", "-->", and etc). CONCLUSIONS: In using "Hangul" in data management and reporting, we became to be familiar with QuipsTM and had good responses from clinicians.
Asian Continental Ancestry Group
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Humans
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Karyotyping
5.Rapid fetal karyotyping by durect analysis of uncultured cytotropholbastic cells from second and third trimester placnetas:an accurate and rapid method.
Young Ho YANG ; Sei Kwang KIM ; Yong Won PARK ; Jae Sung CHO ; In Sook SOHN ; Eun Chan PAIK ; Chan Ho SONG
Korean Journal of Obstetrics and Gynecology 1993;36(7):3083-3090
No abstract available.
Female
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Humans
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Karyotyping*
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Pregnancy
;
Pregnancy Trimester, Third*
6.The role of jigsaw karyotype analysis in the teaching of chromosomal recognition.
Chinese Journal of Medical Genetics 2023;40(3):374-377
Karyotype analysis is the basic method in cytogenetics, and is also recognized as the "gold standard" for diagnosing chromosomal disorders. The teaching and training for traditional karyotyping analysis is time-consuming and even boring. The individual's ability for mastering the chromosome morphology can vary greatly. Therefore, it is necessary to improve the teaching method. On the basis of the traditional method, we have added auxiliary analysis software during the teaching. This type of splicing karyotype teaching has increased the students' interest and improved their ability for karyotyping, allowing them to quickly remember the characteristic bands of chromosomes. Through enhanced memory of a large number of karyotypic images, the students' ability to recognize individual chromosomes has improved.
Humans
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Karyotyping
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Karyotype
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Cytogenetics
;
RNA Splicing
;
Software
7.Web Based Chromosome Karyotyping Instruction System.
Yong Won SHIN ; Jeong Seon PARK
Journal of Korean Society of Medical Informatics 2000;6(4):99-105
The task for chromosome karyotyping and diagnosis is requiring repetitive, time consuming job and high cost even it is done by well-experienced cytogenetists. Therefore an web based chromosome karyotyping instruction system has been established to be able to analyze chromosomes and obtain necessary advises from the database instead of human experts and the database is including 2 divisions with database and agent.For the first of all, database model was constructed with relational database consisting of Patient_DB, image_DB, Disease_DB and Manage_DB. As the second procedure, knowledge base by IF THEN production rule was implemented to a knowledge domain with normal and abnormal chromosomes. For the last, independent agent with the inference by knowledge base could enter the inference data into the database.Experimental data were composed of normal chromosomes of 2,736 patients' cases and abnormal chromosomes of 259 patients' cases that have been obtained from GTG-banding metaphase peripheral blood and amniotic fluid samples.The completed system provides variously morphological information by analysis of normal or abnormal chromosomes and it also makes users enable to control and search the information in a short period with learning of high amount of knowledge.
Amniotic Fluid
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Diagnosis
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Female
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Humans
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Karyotyping*
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Knowledge Bases
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Learning
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Metaphase
8.Cytogenetic Studies of the Korean Chipmunk, Eutamias sibiricus asiaticus.
Yonsei Medical Journal 1976;17(1):39-45
The karyotype of the Korean chipmunk, Eutamias sibiricus asiaticus, was identified and G-banding patterns were demonstrated fer the first time. The diploid number was 38. The autosomes consisted of 4 pairs of metacentrics, 3 pairs of submetacentrics, 4 pairs of subtelocentrics and 7 pairs of acrocentrics. The X chromosome is the second largest in the submetacentric. The Y chromosome is the smallest submetacentric. The present study confirmed and identified Eutamias sibiricus asiaticus as the Korean chipmunk.
Animal
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Female
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Karyotyping
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Korea
;
Male
;
Rodentia/genetics*
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Sciuridae/genetics*
9.Analysis of chromosome karyotype of oral carcinoma-associated fibroblasts.
Xiao-hui ZHENG ; Ying LIU ; Hong-mei ZHOU ; Qian-ming CHEN ; Bing-qi LI
West China Journal of Stomatology 2005;23(2):159-160
OBJECTIVEThe purpose of this study was to investigate whether the fundamental genetic character of oral carcinoma-associated fibroblasts changes through contrasting and analyzing the oral carcinoma-associated fibroblasts and the normal fibroblasts of oral mucosa.
METHODSThe two kinds of cells were treated with colchicine and microsometic fluid, and then were expanded with cold acetic acid and formalized with methyl alcohol. The cells were observed under the oil microscope after Giemsa staining. The chromosome karyotype of the two kinds of cells was analyzed by Visus 2. 1.
RESULTSThere were not obvious differences in the way of chromosome karyotype between the oral carcinoma-associated fibroblasts and the normal fibroblasts of oral mucosa.
CONCLUSIONThe basic genetic characteristics of the normal cells are conserved in the oral carcinoma-associated fibroblasts, which means the cells have no malignant changes.
Chromosomes ; Fibroblasts ; Humans ; Karyotype ; Karyotyping ; Mouth Mucosa ; Mouth Neoplasms ; genetics
10.Partial trisomy 4q: a case report.
Ying-xia CUI ; Yun-hua WANG ; Li-jun HAO ; Lin HOU ; Wei LI ; Yun-feng HUANG
Chinese Medical Journal 2006;119(13):1136-1139
Child
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Chromosomes, Human, Pair 4
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Humans
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Karyotyping
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Male
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Phenotype
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Trisomy