ABSTRACT
Major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. The purpose of this study was to evaluate the role of multicolor fluorescence in situ hybridization in simultaneous detection of probe sets for chromosome 18, X, and Y in uncultured amniotic fluid cells as a safer alternative method for aneuploidy detection prenatally. Fifty amniotic fluid samples were analyzed by FISH and standard cytogenetics. Mean time to obtain results was three days for fluorescence in situ hybridization and 20 days for karyotype. Fluorescence in situ hybridization was informative in 43 samples (86%), and within this group, two aneuploidies were correctly identified. This evaluation demonstrates that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory.
Subject(s)
Female , Humans , Pregnancy , Amniocentesis/methods , Amniotic Fluid/cytology , Aneuploidy , Centromere/genetics , Chromosomes, Human, Pair 18 , Color , DNA Probes , DNA, Satellite/analysis , In Situ Hybridization, Fluorescence/methods , Karyotyping , Sex Chromosome Aberrations/genetics , Sex Chromosome Aberrations/diagnosis , X Chromosome , Y ChromosomeABSTRACT
Os autores relatam um caso de cancer do colon em uma doente com 17 anos de idade sem polipose ou historia familiar previa. Por tratar-se do primeiro caso desta familia, foi aventada a hipotese de um caso de HNPCC. A reacao da cadeia de polimerase (PCR) do tumor demonstrou alteracoes em quatro regioes polimorficas. A analise de duas destas regioes revelou a perda de material genetico evidenciando-se a presenca de instabilidade, sugerindo HNPCC. Submetida a ileo-retoanastomose e quimioterapia adjuvante com boa evolucao. Os autores discutem a importancia da historia familiar, do estudo genetico, da imuno-histoquimica e da instabilidade de microssatelites em pacientes jovens com cancer colorretal