[The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome].
OBJECTIVE
To evaluate the effect of the improvement of chromosome analysis on the cytogenetic findings of Turner syndrome (TS) patients.


METHODS
Retrospective study of the results of the karyotypes of 260 patients with TS, regarding banding techniques, number of cells analyzed and results of investigation of Y-chromosome sequences. According to karyotype, divided in 45,X; sex chromosome mosaicism without Y; structural aberrations of sex chromosomes with or without mosaicism; sex chromosome mosaicism with Y.


RESULTS
45,X was the most frequent karyotype (108), followed by structural aberrations (88) and mosaics (58 without Y and 6 with Y). Introduction of banding techniques and increase in the number of cells analyzed resulted in progressive decrease of 45,X karyotype and increase of structural aberrations. The study of Y-chromosome sequences was performed in 96 cases of which 10 resulted positive.


CONCLUSIONS
Improvement of chromosome analysis over the years has modified the cytogenetic profile of TS.
Barros
Beatriz Amstalden
BA
Departamento de Pediatria, Unidade de Endocrinologia Pediátrica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
Maciel-Guerra
Andréa Trevas
AT
De Mello
Maricilda Palandi
MP
Coeli
Fernanda Borchers
FB
Carvalho
Annelise Barreto de
AB
Viguetti-Campos
Nilma
N
Assumpção
Juliana de Godoy
Jde G
Marques-de-Faria
Antonia Paula
AP
Lemos-Marini
Sofia Helena Valente de
SH
Guerra-Junior
Gil
G
D000293:Adolescent; D016009:Chi-Square Distribution; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000235:genetics*