CYTOGENETIC ANALYSIS OF PACIENTS WITH SUSPECT OF ULLRICH-
TURNER SYNDROME IN CEARÁ STATE - BRAZIL
ABSTRACT
Ullrich Turner syndrome (UTS) is the most common chromosomal disorder causing
short stature in females. In 50% of cases, an entire sexual pair chromosome (45,X
karyotype) is missing. The other 50% of females possess a range of karyotypic
abnormalities, including partial absence of the second X chromosome and mosaicism.
There is no relationship with increasing maternal age. Frequent mosaic forms includes
45,X/46,XX, 45,X/46,X,i(Xq) and 45,X/46,XY. The presence of Y chromosome material
may cause the development of gonadoblastoma. Patients with karyotype 45,X show more
diversified phenotypes in relation to the ones who present other karyotype forms. Thus,
there is a huge phenotypic variation that can be related with the different forms of
karyotypes. The patients of this study were screened by the geneticist and/or the
endocrinologist. Conventional cytogenetic studies were performed in peripheral blood
lymphocytes. Karyotyping was done on GTG and CBG banded metaphases, and
cytogenetic abnormalities were decribed according to the International Standing Committee
on Human Cytogenetic Nomenclature. Fluorescence in situ hybridization (FISH) analysis
was carried out on metaphases using a commercially avaliable whole X chromosome
painting probe and centromeric Y chromosome probe. From the 43 patients suspected to
have the disease, 15 presented normal karyotype (46,XX). From the other 28 patients, 14
(50%) presented the classic karyotype 45,X, 5 (17,87%) 45,X/46,XX, 1 (3,57%)
45,X/46,X,i(X)(q10), 2 (7,14%) 45,X/46,X,r(X)(q10), 1 (3,57%)
45,X/46,X,i(X)(q10)/46,X,r(X)(q10), 2 (7,14%) 46,X,i(X)(q10), 1 (3,57%) 45,X/46,XY, 1
(3,57%) 45,X/46,X,rdic(Y) and 1 (3,57%) presented a karyotype
45,X/46,X,idic(Y)/47,X,idic(Y),idic(Y) rare in literature. Among the 28 patients with
diagnostic positive, 28/28 (100%) presented short stature, 22/28 (78,57%) flat chest (“in
shield”), 17/23 (73,91%) absence of secondary sex characteristics, 15/23 (65,22%) primary
amenorrhea, 18/28 (64,29%) cubitus valgus, 15/28 (53,57%) webbed neck, 14/28 (50%)
low posterior hairline, 7/28 (25%) short fourth metacarpal, 5/28 (17,86%) edema of hands
or feet and 5/28 (17,86%) hypothyroidism. Thus we conclude that women with short
stature, flat chest (“in shield”), absence of secondary characteristics should be analyzed her
karyotype.
Key words: Sexual infantilism, Short stature, Chromosome aberrations, Turner syndrome,
Monosomy.