Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of 'hidden' mosaicism
| Autor: | R, Fernández-García, S, García-Doval, S, Costoya, E, Pásaro |
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| Rok vydání: | 2000 |
| Předmět: |
Male
Sex Chromosomes Mosaicism Nuclear Proteins Turner Syndrome Sequence Analysis DNA Aneuploidy Polymerase Chain Reaction Sex-Determining Region Y Protein Chromosome Banding DNA-Binding Proteins Open Reading Frames Karyotyping Humans Female Lymphocytes DNA Probes In Situ Hybridization Fluorescence Polymorphism Single-Stranded Conformational Transcription Factors |
| Zdroj: | Clinical genetics. 58(3) |
| ISSN: | 0009-9163 |
| Popis: | We performed a genetic study of sex chromosome mosaicism in 41 Turner syndrome patients. The investigation was carried out in four phases: cytogenetics (G-banding), FISH, PCR for SRY in all 41 cases, and sequencing of the SRY gene in the 2 patients with the Y chromosome. The application of classical alpha-satellite probes (CEP-X and CEP-Y), painting probes (WCP-X and WCP-Y) and also XIST, DXZ4 and two subchromosomal painting libraries (SCPL 116 and SCPL102) covering the short and the long arm of the X chromosome, respectively, allowed us to find new mosaic cell lines (mosaicism) in 37 out of 41 patients; only 4 patients were defined as 45,X non-mosaic. The most frequent hidden mosaic was 45,X/46,XX in 32% of the cases; the presence of isochromosomes comprised 25% and markers 5%. The patients who had been previously diagnosed as mosaics displayed a higher complexity in their karyotypes due to the presence of new cell lines. The Y chromosome and the SRY gene were present in blood and ovarian tissue in 2 patients with karyotypes 45,X/46,XY and 45,X/46,X,idic(Ynf). In both patients, the sequencing of the SRY gene confirmed a nucleotide sequence identical to that of a control male. Our results support the hypothesis of 'the necessity of mosaicism for survival', and thus, a mitotic origin for this syndrome. |
| Databáze: | OpenAIRE |
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