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

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

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

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

OBJECTIVE: To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. METHODS: A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. RESULTS: Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46,XX,rec(8)(qter→q22.3::p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46,XX,inv(8)(p23.1q22.3), whilst that of her husband was normal. CONCLUSION The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 have differed from previously reported ones.
Humans ; Fetus/abnormalities* ; Chromosomes, Human, Pair 8 ; Female ; Pregnancy ; Karyotyping

Objective: To explore the prognostic effects of mean corpuscular volume (MCV) in patients with myelodysplastic syndromes (MDS) . Methods: 321 newly diagnosed, untransfused primary MDS patients who administered from December 2009 to December 2017 were enrolled. The association of MCV with prognosis and several clinical features and genetic mutations were analyzed. Results: Patients were divided into MCV≤100 fl (n=148) and MCV>100 fl (n=173) cohorts. Median overall survival of patients with MCV≤100 fl was shorter than their counterparts (27 months vs 72 months, P<0.001) . In subgroup analysis, MCV≤100 fl patients had worse survivals in bone marrow blast <5% cohort (34 months vs not reached, P=0.002) , but not so in ≥5 % cohort (17 months vs 20 months, P=0.078) . MCV≤100 fl was still an independent adverse variable (HR=1.890, 95%CI 1.007-3.548, P=0.048) after adjusting for clinical and laboratory variables and mutation topography in bone marrow blasts<5% cohort. In bone marrow blasts<5% cohort, patients with MCV≤100 fl had higher hemoglobin levels [90 (42-153) g/L vs 78.5 (28-146) g/L, P=0.015].The proportions of Revised International Prognostic Scoring System (IPSS-R) high/very high risks and poor/very poor IPSS-R karyotypes were higher in MCV≤100 fl cohort (28.8% vs 10.8%, P=0.003; 24.7% vs 12.9%, P=0.049) . MCV≤100 fl cohort had more genetic mutations than those with MCV>100 fl though without significance (0.988 vs 0.769, P=0.064) . Mutated SF3B1 was less frequently in MCV≤100 fl cohort (4.7% vs 15.4%, P=0.018) . Conclusion: MCV≤100 fl was an independent adverse variable after adjusting for clinical and laboratory variables and mutation topography in MDS patients with bone marrow blasts<5%.
Bone Marrow ; Erythrocyte Indices ; Humans ; Karyotyping ; Myelodysplastic Syndromes ; Prognosis