1,2Elva I. Cortes-Gutierrez, 1,2,3Ricardo M. Cerda-Flores, 1Julie B. Silva-Cudish, 1Martha I. Davila-Rodriguez, 4Ricardo Hernandez-Herrera, 1,2Carlos H. Leal-Garza
1Genetics Division, Northeast Biomedical Research Center, Instituto Mexicano del Seguro Social, Nuevo León, Mexico, 2Facultad de Biologia, Universidad Autonoma de Nuevo León, Nuevo León, Mexico, 3Facultad de Enfermería, Universidad Autonoma de Nuevo León, Nuevo León, Mexico, 4Department of Genetics, Hospital 23, Instituto Mexicano del Seguro Social, Nuevo León, Mexico
The aim of this serial case study was to evaluate the sex chromosome aneuploidies in patients with Turner syndrome using two cytogenetics techniques. A sample of 35 females with clinically suspected Turner syndrome [examined in the Hospital 23, Instituto Mexicano del Seguro Social (IMSS), Monterrey, Mexico] were subjected to conventional cytogenetic technique with G-banding and to fluorescence in situ hybridization (FISH) using a specific alpha satellite-X chromosome (DXZ1) and a specific alpha satellite-Y chromosome (DYZ1). Using both techniques, 17 cases (48.57%) showed the same kariotype. Using the FISH technique: (a) in eight cases the presence of the Y chromosome was confirmed, (b) in 18 cases (51.43%) a new cell line was identified, (c) two cases (5.71%) clarified the derivative-X, and (d) in three cases (8.57%) the origin of the chromosome markers (one of X-chromosome and two of Y-chromosome) was delineated. FISH technique has highlighted the differences between the initial diagnosis based on G-banding and the final diagnosis determinate by specific probes for the X and Y-chromosomes. In conclusion, the FISH technique is a useful tool in the detection of low frequency cell lines, and identification of the nature and origin of the derivative chromosomes and unknown chromosome markers which have important implications for the proper management and treatment of patients with Turner Syndrome.
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