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Revista Médica del Uruguay

On-line version ISSN 1688-0390


DRETS, Máximo E  and  SANTINAQUE, Federico F. Retardo mental, malformaciones congénitas y aberraciones cromosómicas subteloméricas crípticas. Rev. Méd. Urug. [online]. 2005, vol.21, n.2, pp.93-106. ISSN 1688-0390.

Summary Recent technological advances occurred in molecular cytogenetics have allowed to detect numerous minute aberrations in the chromosome region contiguous to the telomere or subtelomeric segment which has been related to various conditions of mental retardation and congenital malformations and to other clinical syndromes of medical interest. Previous research on the subtelomere carried out by means of scanning microphotometry and computer graphic analysis, revealed different patterns of the distribution of chromatin densities and the existence of minute exchanges between sister chromatids in this chromosomic segment. The detection of cryptic syndromatic aberrations, the high number of chromosome crossovers and the microscopical observations on the subtelomeric structure suggest that they reflect the great genomic activity and the structural complexity prevailing in the region. In the present review, several subtelomeric chromosome syndromes, the cytological and molecular structure of the subtelomeric region as well as the main functions of the chromosome terminal segment are briefly described in order to give a general panorama on this fast growing research area of considerable significance in bio-medicine


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