improved resolution of the genomic scan, while its sensitivity remains comparable to that of MC. As a result, the proportion of patients with normal karyotype decreased compared to routine MC, and more patients showed multiple lesions. It is likely that the presence of additional changes as detected by SNP-A analysis is responsible for the variability of the clinical phenotype associated with a known karyotype. Of significant interest is that regions of UPD detected by SNP-A were also located in portions of chromosomes frequently affected by genomic losses. We suggest that SNP-A constitutes a major advance in comparison to MS-based identification of LOH. Theoretically, the resolution of SNP-A is limited only by the number of SNP probes used, while its sensitivity depends on the contribution of the dysplastic clone to the overall cellular content of the sample. One major advantage of SNP-A is the ability to perform analyses on interphase cells without the need for cell division. This advantage is reflected by the low proportion of non-informative results. Unlike traditional MC, SNP-A do not allow for the distinction of multiple clones and minor clones may remain undetected due the 'dilution' effect. In general, SNP-A showed very good correlation with MC. However, in a proportion of patients lesions detected by MC were not found by SNP-A. This discrepancy is due to various reasons, including the fact that loss of Y is not tested on the array and balanced translocations and inversions cannot be detected by this technique. Finally, the remaining discrepancy is due to lower sensitivity of SNP-A for smaller clones.Our analysis was performed using total bone marrow. Sorted myeloid cells were not available but it is likely that lymphocyte depletion would result in a higher detection rate. Despite this shortcoming, clonal lesions were detected and the fact that the defects were seen despite the contamination suggests that the clones detected were of significant size. While this clearly decreases the sensitivity, it may be an advantage as only large likely clinically significant clones were studied.In sum, we have written this letter as we believe that SNP-Abased karyotyping is a technology that should be further explored as it may complement metaphase karyotyping in improved prediction of clinical phenotype and prognosis in the diagnosis of MDS and allow for better mapping of the breakpoints. To our knowledge, our letter describes the first systematic application of this technology in MDS. We hope that we can inspire further investigations and discussion on innovative ways to improve cytogenetic diagnosis of MDS. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood 1997; 89: 2079-2088. 2 Sole F, Luno E, Sanzo C, Espinet B, Sanz GF, Cervera J et al.Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes.
After careful choice of appropriate initial test, stability of IQ in children with developmental delay was noted from pre-school through early childhood. In addition, the translated version of cognitive assessment was valid for the required context of an Asian developing country. With the current emphasis on early identification and intervention for pre-school children with developmental delay, this information bears merit in clinical practice.
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