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

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

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

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

Acute myeloid leukemia (AML) is a group of diseases with a conspicuous heterogeneity. Following the development of cytogenetics, multiple reproducible chromosome aberrations have been discovered in AML, many of which not only are diagnostic markers for specific AML subtypes but also significant prognostic factors for determining complete remission (CR), relapse risk, and overall survival (OS). However, with the foundation of available chromosome analysis, a large group of acute myeloid leukemia (AML) patients, 40% to 49% of adults and 25% of children had not been found abnormality of chromosome karyotype under microscope. These so-called cytogenetically normal acute myeloid leukemia (CN-AML) patients have usually been classified in an intermediate-risk prognostic category. Nevertheless, the outcome of the CN-AML patients are varied in clinical studies, likely because there exist diverse gene mutations in these patients according to recent researches. Those mutations at the molecular level, on basis of which AML could be further classified, are significantly associated with CN-AML patients and offer potential targets for specific therapeutic studies. The review focuses on research advances abroad in this field including gene mutations suggesting bad prognosis such as FMS-related tyrosine kinase 3 gene mutation, Baalc gene and ETS-related gene hyperexpression, Wilms' tumor gene mutation and other gene mutations as well as gene mutations suggesting good prognosis such as nucleophosmin gene mutation, mixed lineage leukemia-partial tandem duplication, CCAAT/enhancer-binding protein α gene mutation.
Cytogenetics ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; diagnosis ; genetics ; Prognosis

OBJECTIVETo investigate factors that affect survival and prognosis of acute myeloid leukemia (AML)-M(4).

METHODSSeventy AML-M(4) patients were divided into three groups, neither eosinophilia nor inv(16)\[Eos(-)\], eosinophilia with inv (16)\[Eos(+) inv(16)(+)\], and eosinophilia with no inv(16)\[Eos(+) inv(16)(-)\]. Clinical features, immunophenotype, chromosome karyotype, overall survival (OS) and relapse-free survival (RFS) were analyzed.

RESULTSThe total complete remssion (CR) rate was 85.7%, CR rate after the first course of induction therapy was 71.4%. The median OS was 20 (1.2 - 162.4) months, and median RFS 78.0 (1.2 - 129.5) months. The 3 and 5 year OS rates were 42% and 42%, and 3 and 5 year RFS rates were 59% and 54%, respectively. The CR rate, CR after the first course of induction therapy and the median OS for the Eos(-) group were 76.9%, 61.5% and 11.2 (1.2 - 162.4) months; for the Eos(+) group were 96.8%, 89.6% and did not reach; for the Eos(+)inv16(+) group were 100%, 94.4% and did not reach; and for the Eos(+) inv(16)(-) group were 91.7%,69.2% and 14.3 months respectively. The statistical assay showed significant difference between Eos(+)inv(16)(-) and Eos(+)inv(16)(+) groups in OS. The Eos(+) patients present with early onset and low count of platelets.

CONCLUSIONEosinophilia emerged as a favorable prognostic factor, and the concomitant presence of both eosinophilia and inv(16) is associated with a significantly favorlable prognosis.

Child ; Humans ; Karyotyping ; Male ; Osteochondrodysplasias ; classification ; diagnosis ; genetics

Pterocypsela is a very important traditional Chinese medicine from the tribe Cichorieae of Asteraceae. Mitotic chromosome numbers and karyotypes are reported for P. formosana and P. elata from Hunan and Hubei province, China. The former is new and the latter provide confirmation of previous reference. All P. taxa are diploidy with 2n = 18 and their basic number is tentatively suggested as x = 9. Karyotype of Pterocypsela is 2A and P. formosana with a karyotype formula of 2n = 2x = 18 = 4m + 14sm, and 2n = 2x = 18 = 2m + 8sm +8st for P. elata. It is the first time to report the AI value for Pterocypsela in this paper. Cytological data of chromosomal numbers and karyotypes were used to discuss the close relationships of the Pterocypsela genus and the taxonomy of the medicinal plants.
Asteraceae ; classification ; cytology ; genetics ; Chromosomes, Plant ; genetics ; Diploidy ; Karyotyping