Evaluation of sex chromosome aneuploidies in women with Turner's syndrome by G-banding and FISH. A serial case study

• Published in: Journal of reproductive medicine Vol. 48; no. 10; p. 804
• Main Authors: Cortés-Gutiérrez, Elva I, Cerda-Flores, Ricardo M, Silva-Cudish, Julie B, Dávila-Rodríguez, Martha I, Hernández-Herrera, Ricardo, Leal-Garza, Carlos H
• Format: Journal Article
• Language: English
• Published: United States 01.10.2003
• Subjects: Adolescent; Adult; Child; Chromosome Aberrations; Female; Humans; In Situ Hybridization, Fluorescence - methods; Karyotyping - methods; Predictive Value of Tests; Sex Chromosomes - genetics; Turner Syndrome - genetics
• ISSN: 0024-7758

To evaluate sex chromosome aneuploidies in patients with Turner's syndrome using two cytogenetic techniques. A sample of 35 women with a clinical suspicion of Turner syndrome was examined in the Hospital of Obstetrics and Gynecology, Instituto Mexicano del Seguro Social, Monterrey, Mexico. They were subjected to a conventional cytogenetic technique with G-banding and to fluorescence in situ hybridization (FISH) using a specific alpha satellite X chromosome (DXZ1) and specific alpha satellite Y chromosome (DYZ1). Using both techniques, 17 cases (48.57%) showed the same karyotype. Using FISH: (1) in 8 cases the presence of the Y chromosome was confirmed, (2) in 18 cases (51.43%) a new cell line was identified, (3) in 2 cases (5.71%) the derivative X was clarified, and (4) in 3 cases (8.57%) the origin of the chromosome markers (1 of X chromosome and 2 of Y chromosome) was delineated. FISH highlighted the differences between the initial diagnosis, based on G-banding, and the final diagnosis, determined by specific probes for the X and Y chromosomes. FISH is a useful tool in the detection of low-frequency cell lines and identification of the nature and origin of derivative chromosomes and unknown chromosome markers that have important implications for the treatment of patients with Turner's syndrome.