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The Proportion of Diploid 46,XX Cells Increases with Time in Women with Turner Syndrome-A 10-Year Follow-Up Study

Anna-Maria Denes (Institutionen för biologi och bioteknik) ; Kerstin Landin-Wilhelmsen ; Yvonne Wettergren ; Inger Bryman ; Charles Hanson
Genetic Testing and Molecular Biomarkers (1945-0265). Vol. 19 (2015), 2, p. 82-87.
[Artikel, refereegranskad vetenskaplig]

In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean +/- standard deviation: 42.0 +/- 11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7 +/- 13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS.

Denna post skapades 2015-02-19. Senast ändrad 2016-11-03.
CPL Pubid: 212864


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Institutioner (Chalmers)

Institutionen för biologi och bioteknik
Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition (GU)
Institutionen för kliniska vetenskaper, sektionen för kirurgi och kirurgisk gastroforskning, Avdelningen för kirurgi (GU)
Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för obstetrik och gynekologi (GU)


Biokemi och molekylärbiologi
Obstetrik och kvinnosjukdomar

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