45,X/47,X,i(X)(q10),i(X)(q10)/46,X,i(X)(q10) Isochromosome Xq in Mosaic Turner syndrome
摘要
We know from our clinical experience in the practice of medicine that in diagnosis, prognosis, and treatment, the individual and his background of hereadity are just as important, if not more so, as the disease itself" (Paul White).Technological developments in cytogenetics resulted in establishing the number of chromosomes in human beings as 46 in 1956, though the chromosome complement of various organisms was known in the previous century itself.Diagnostic cytogenetics had its birth in 1959 and showed the association of chromosomal defects with various diseases and human cytogenetics is now a rapidly progressing field of interest, in biomedicine.Advances in cytogenetic technology have helped in the elucidation of chromosomal morphology to unravel aberrations at various levels and their association with different diseases.These advances comprise of banding techniques including high resolution banding procedures, fluorescent in situ hybridization, spectral karyotyping, comparative genomic hybridization including array CGH technology and sequencing, thus resulting in a new branch of cytogenetics, namely, molecular cytogenetics.In the initial stages, when the special issue