Use of the International System for Human Cytogenetic Nomenclature (ISCN)

Garcı́a, Jesús; Meza-Espinoza, Juan Pablo

doi:10.1182/blood-2006-06-031351

Cited by 51 publications

(32 citation statements)

References 2 publications

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“…A routine G-Banding analysis was conducted for all patients [19]. When fewer than 10 metaphase cells were present, fluorescence in situ hybridization (FISH) [20] was performed using four probes LSI(5q31)(D5S721), LSI(20q12)(D20S108), CEP8D8Z2 and CEP7D7Z1) to assess the common abnormalities such as 5q−, 20q−, +8, and −7.…”

Section: Methodsmentioning

confidence: 99%

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Distinct Clinical and Experimental Characteristics in the Patients Younger than 60 Years Old with Myelodysplastic Syndromes

Xiao

Chang

et al. 2013

PLoS ONE

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Myelodysplastic syndromes (MDS) mainly occur in elderly individuals in Western countries. However, MDS is commonly found in young individuals (<60 years) in Asia. The reason for the high incidence in younger individuals is still unclear, and the differences in disease features between young and elderly patients with MDS have been not well recognized. To explore these issues, in this study, we analyzed the clinical and experimental characteristics of MDS in the patients younger and older than 60 years old and characterized the potential age-associated differences. The results showed that over half of the patients with MDS (61.9%) were younger than 60 years old upon the first diagnosis. The younger patients were more likely to be female, who have lower risk and less advanced MDS. The occurrence of trisomy 8 and bone marrow failure were more frequent in the younger patients than the older ones. The marrow CD34+ cells in the younger patients showed lower proliferation and higher apoptosis in comparison with that in the older ones. Obvious amplification of T cells and low CFU formation could be found in the younger patients. CFU formation was significantly increased in the younger patients after the removal of activated T cells. In addition, the younger patients had a lower frequency of p15INK4B methylation, longer survival expectancy and less AML transformation. In summary, the younger patients with MDS in China may show more benign disease features than the older ones. Enhanced immunological response may be involved in the pathogenesis of MDS in the patients younger than 60 years.

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Section: Methodsmentioning

confidence: 99%

“…The expression of CD19, CD38, CD117 and CD7 in CD34+ cells are considered to be related to differentiation and proliferation of HSCs [19]–[22]. The percentage of CD34+CD19+ cells (refer to B-cell progenitors) reflects the differentiation from HSCs to B cells [22].…”

Section: Methodsmentioning

confidence: 99%

Distinct Clinical and Experimental Characteristics in the Patients Younger than 60 Years Old with Myelodysplastic Syndromes

Xiao

Chang

et al. 2013

PLoS ONE

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“…For chromosome analysis, at least 30-50 metaphase chromosomes had to be counted in each sample, and at least 20 metaphase chromosomes were analyzed by microscopy or microphotography. Karyotypes were analyzed according to the International System for Cytogenetic Nomenclature [24]. For cytogenetic categorization, patients were classified according to the International Prognostic ScoringSystem(IPSS)forkaryotypes [14](good-normal:-Y,del(5q)and del(20q); poor-complex: 3 or more abnormalities and chromosome 7 anomalies;intermediate:otherabnormalities).…”

mentioning

confidence: 99%

Trisomy 8 is the Most Frequent Cytogenetic Abnormality in de novo Myelodysplastic Syndrome in China

et al. 2012

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Background: Cytogenetic abnormalities have been detected in 40–60% of patients with de novo myelodysplastic syndrome (MDS). Some reports suggest that Asian and Western MDS patients have different cytogenetic features. Patients and Methods: We retrospectively analyzed 168 patients with de novo MDS and compared our results with other Chinese centers to investigate the prevalence and cytogenetic characteristics of MDS in China. Results: In our study, chromosome abnormalities were detected in 40.48% of patients (68/168). Although the median survival time did not differ between younger and older (≧60 years) patients (p = 0.969), survival curves based on International Prognostic Scoring System (IPSS) cytogenetic groups and WHO Classification-Based Prognostic Scoring System (WPSS) risk groups were significantly different (p < 0.001). Survival differences were observed between patients in the normal karyotype group, sole trisomy 8 group, and poor cytogenetic group according to IPSS (p < 0.001). In agreement with the results from 2 other large Chinese centers, trisomy 8 was the most detected cytogenetic abnormality, with a prevalence of 14.21%. Conclusion: Trisomy 8, categorized as intermediate cytogenetic risk group in our study, is the most frequent cytogenetic abnormality in de novo MDS in China.

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“…The amniotic fluid puncture was performed as routinely described. The karyotype analysis was performed according to the International System for Human Cytogenetic Nomenclature guidelines (12). …”

Section: Methodsmentioning

confidence: 99%

Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing

Qiang

Cai

Wang

et al. 2017

Experimental and Therapeutic Medicine

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The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks. The samples were delivered at −80°C to the certified Shenzhen BGI Clinical Laboratory Center. Sequencing data were analyzed using a proprietary algorithm. Women with positive NIPT results were recommended to receive karyotype analysis and amniotic fluid puncture for further validation. The cases were followed up for 56 days after delivery. All the patients underwent ultrasound examination, and the majority of patients (91.16%) showed normal findings. In contrast, 136 (7.15%) showed ultrasound anomalies. The most common anomaly was echogenic heart focus (n=80), accounting for 4.21% of the patients. Twenty-two cases were classified by the NIPT to be positive for the T21 (n=15), T18 (n=5) and T13 (n=2), respectively, while the others (n=1,879) were classified to be NIPT negative cases. Among these cases, the fetal outcome data were obtained in 1,483 cases, while 396 were lost to follow-up. The majority of cases (75.47%) were normal at birth. Neonatal death was observed in 1 case. Five pregnant women decided termination of pregnancy despite the presence of NIPT negativity. In conclusion, NIPT technique is feasible for the prenatal screening of T18 and T21 with higher sensitivity and specificity compared with conventional methods.

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Use of the International System for Human Cytogenetic Nomenclature (ISCN)

Cited by 51 publications

References 2 publications

Distinct Clinical and Experimental Characteristics in the Patients Younger than 60 Years Old with Myelodysplastic Syndromes

Distinct Clinical and Experimental Characteristics in the Patients Younger than 60 Years Old with Myelodysplastic Syndromes

Trisomy 8 is the Most Frequent Cytogenetic Abnormality in de novo Myelodysplastic Syndrome in China

Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing

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