1022-7954/01/3706- $25.00 © 2001
Russian Journal of Genetics, Vol. 37, No. 6, 2001, pp. 671–677. Translated from Genetika, Vol. 37, No. 6, 2001, pp. 817–824.
Original Russian Text Copyright © 2001 by Guskov, Shkurat, Polienko, Amelina, Timolyanova, Lomteva, B.V. Vladimirsky, B.B.Vladimirsky.
Shereshevsky–Turner syndrome (STS; 45,X0) is the
only monosomy found in live newborns. Its frequency
varies from 1 per 2500 to 1 per 5000 newborns and is inde-
pendent of the race and geographic distribution [1–4].
There are several forms of STS caused by different
chromosomal abnormalities, including the classical
45,X0 form, mosaic forms, and the forms caused by
structural aberrations of the X chromosome. Each cyto-
genetic variant of STS is characterized by a speciﬁc set
of clinical symptoms [5, 6].
We studied the differences between the STS cytoge-
netic variants with respect to their clinical symptoms in
the Rostov oblast (RO) and northern Caucasus (NC)
populations and analyzed the causes of the aberrations
and X-chromosome nondisjunction.
MATERIALS AND METHODS
The sample comprised 233 patients examined at
medical genetic services of the Research Institute of
Obstetrics and Pediatrics (Rostov-on-Don) and Rostov
Regional Hospital from 1978 to 1998. The subjects
examined were residents of the RO and some settle-
ments in the NC.
For cytogenetic analysis, we used peripheral blood
lymphocytes cultured by the standard method .
The patients were divided into three groups: (1) 143
patients (111 and 32 from the RO and NC, respectively)
with the karyotype 45,X0, (2) 61 patients (49 and 12
from the RO and NC, respectively) with various mosaic
forms, and (3) 29 patients (25 and 4 from the RO and
NC, respectively) with an X-chromosome aberration.
The results were tested for statistically signiﬁcant
differences using Student’s
test was used
to determine whether the age distribution of the STS
patients’ parents coincided with the age distribution of
the total Rostov population.
Factor analysis of the data obtained was performed.
The original data was presented in the dichotomic
form; correlation coefﬁcients were calculated for them
. The correlation coefﬁcients were tabulated to form
a correlation matrix, which was then subjected to factor
analysis. We used the standard SPSS software package
for factor analysis.
RESULTS AND DISCUSSION
Variants of Chromosomal Rearrangements
in STS Patients
Table 1 shows the frequencies of different variants
of chromosome abnormalities in STS patients exam-
ined. The most common cytogenetic variant of STS
was X monosomy (60 and 66.6% of all STS cases in the
Clinical Polymorphism of Shereshevsky–Turner Syndrome
in Rostov Oblast and the Northern Caucasus in 1978–1998
E. P. Guskov
, T. P. Shkurat
, A. Ya. Polienko
, S. S. Amelina
, E. K. Timolyanova
S. V. Lomteva
, B. V. Vladimirsky
, and B. B. Vladimirsky
Research Institute of Biology, Rostov State University, Rostov-on-Don, 344090 Russia;
Research Institute of Obstetrics and Pediatrics, Rostov-on-Don, 344012 Russia
Research Institute of Neurocybernetics, Rostov State University, Rostov-on-Don, 344090 Russia
Received September 14, 1999; in ﬁnal form, May 8, 2000
—Polymorphism of Shereshevsky–Turner syndrome (STS) was studied in 233 patients who were
examined at medical genetic services of the Research Institute of Obstetrics and Pediatrics (Rostov-on-Don)
and Rostov Regional Hospital from 1978 to 1998. The subjects examined were residents of the Rostov oblast
(administrative region) (RO) and some settlements in the northern Caucasus (NC). The mean incidence rate of
STS was 3.8 per 10 000 newborns in this region in the period studied. Most STS cases were accounted for by
the X trisomy (60 and 66.6% in the RO and NC, respectively). The mosaic form of STS was found in 25% of
cases in both RO and NC. Other cytogenetic forms were found in 13.5 and 8.33% of patients from the RO and
NC, respectively. The clinical polymorphism of STS, dynamics of its manifestation during ontogeny, and
anthropometric parameters of the patients were studied. The effects of the age of parents, the season and month
of conception, occupational hazards at the parents’ workplaces, and the place of residence on the risk of STS
were analyzed. Factor analysis was used to determine the sets of the main clinical signs characteristic of differ-
ent STS cytogenetic forms in the RO and NC populations.