No abstract available.
Karyotyping* ; Pregnancy*

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 ; Karyotyping ; Leukemia ; genetics ; pathology ; Spectral Karyotyping

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 ; Karyotyping

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 ; Humans ; Karyotyping

No abstract available.
Female ; Humans ; Karyotyping* ; Pregnancy ; Pregnancy Trimester, Third*

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 ; Karyotyping ; Karyotype ; Cytogenetics ; RNA Splicing ; Software

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 ; Female ; Karyotyping ; Korea ; Male ; Rodentia/genetics* ; Sciuridae/genetics*

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 ; Diagnosis ; Female ; Humans ; Karyotyping* ; Knowledge Bases ; Learning ; Metaphase

Chromosome analysis has been widely used in clinics including prenatal diagnosis. To obtain high-quality metaphase chromosomes, researchers have attempted to modify the methods for chromosome culture, preparation and analysis. Some large research centers also tried to establish standards for quality control. In this paper, modification of methods for the preparation of chromosomes in the last decade is reviewed.
Cells, Cultured ; Chromosomes, Human ; Cytogenetic Analysis ; Humans ; Karyotyping ; Metaphase

Adult ; Chromosome Aberrations ; Female ; Humans ; Infant, Newborn ; Karyotyping ; Male ; Pedigree