2008 Barcelona - European Society of Human Genetics

Cytogenetics
region of AZF locus and different prevalence of the partial deletions
were reported in different populations .
In present study, we have screened 50 nonobstructive azoospermia
men and 50 fertile men for gr/gr deletion of DAZ gene . Tow AZFc-specific
sequence-tagged sites were examined using multiplex PCR method
. The prevalence of gr/gr deletions in patients and controls samples
were 32% (16/50 cases) and 6% (3/50 cases) respectively . The difference
between two groups was significant (p-value: 0.011) Our results
suggest that gr/gr partial deletion is more frequent in infertile men and
may be correlated to the Iranian male infertility .
P02.220
Y chromosome microdeletion screening in infertile men in
serbia
M. L. Ristanovic 1 , V. Bunjevacki 1 , I. Novakovic 1 , A. Nikolic 2 , C. Tulic 3 , M. Majkic
1 , A. Mircic 4 , D. Radojkovic 2 ;
1 Institute of Human Genetics, Medical faculty, University of Belgrade, Belgrade,
Serbia, 2 Institute of Molecular Genetics and Genetic Egineering, Belgrade,
Serbia, 3 Institute of Urology and Nephrology, Medical faculty,University of Belgrade,
Belgrade, Serbia, 4 Institute of Histology and embryology, Medical faculty,
University of Belgrade, Belgrade, Serbia.
The purpose of this study was to evaluate frequency Y chromosome
microdeletions in Serbian men with azoospermia and severe oligozoospermia
. Initially, 206 infertile patients were included in the study
and spermogram has been performed in order to determine the sperm
density . Patients were excluded if clinical evidence of obstructive azoospermia
or known cytogenetic defects were present . The screening
for Y chromosome microdeletion was performed in 176 selected patients
by multiplex polymerase chain reaction (PCR) method on DNA
extracted from peripheral blood . The following STS markers were
tested: sY 84, sY 86 (AZFa); sY 127, sY134 (AZFb); sY 254, sY 255
(AZFc). Amplification found to be negative were repeated at least two
times to confirm the deletion of given marker. The presence of deletions
was correlated with patient’s sperm concentration, and hormonal
parameters .In 6,1 % men with sperm concentration less than 1x 10 6
/ml a Y chromosome microdeletions were detected, comparing to 8,5
% in azoospermic men . The most frequent deletion was AZFc . Conclusion:
The clinical correlation of spermatogenic impairment to the different
AZF region deletions may provide the useful information for genetic
counseling of infertile couples .
P02.221
Genetic studies in 50 patients with Functional Azoospemia
C. J. Trujillo 1 , S. Ashour 1,2 , S. B. El-Badawi 1 ;
1 Erfan & Bagedo, Jeddah, Saudi Arabia, 2 Cairo University, Cairo, Egypt.
The present study investigates the number of molecular and cytogenetic
defects in a population of 50 azoospermic men, (age 33 .36 range
26 to 50) from the Western Region of Saudi Arabia from January 2006
to December 2007. Functional azoospermia was defined as total absence
of spermatozoa in ejaculate, with normal vas deferens and without
obstruction .
Cytogenetic analysis was performed in peripheral blood culture . GTGbanding
of 20 metaphases was done . FISH with X centromeric (CEP
X), Y centromeric (CEPY), SRY LSI probes was used . In all cases of
mosaicism 500 cells were scored by FISH .
Y microdeletions were detected by multiplex PCR according to the European
Molecular Genetics Quality Network guidelines for Yq deletion
testing, using gene-specific primers that covered all three regions of
the azoospermic factor (AZFa, AZFb and AZFc) . This included sY84,
sY86 for AZFa; sY127, sY134, for AZFb; sY254, sY255 for AZFc .
Chromosome abnormalities were observed in 16 cases (32%), including
47,XXY karyotype in 11 cases, three mosaic (one 47,XXY/
46,XY/45, one 47,XXY/46,XY and one 46,XY/45,X) . One patient was
46,XX male, SRY gene was detected by FISH . One patient had a terminal
deletion of chromosome 19p13 . Y microdeletions were found in
three cases (6%): two with AZFc, and one with both AZFc and AZFb .
Genetic abnormalities were determined in 38% of azoospermic cases,
which is higher than the usual reported figures between 15% to 30%.
Genetic testing is indicated to determine etiology of azoospermia and
to choose ART strategies and the offering of prenatal diagnosis in the
indicated cases .
P02.222
An azoospermic man with a rare sex chromosome mosaicism
S. Afshar, C. Azimi, F. Farzanfar;
Department of Genetics, Cancer Institute, Imam Khomeini Medical Center,
School of Medicine, Medical Sciences / University of Tehran, Tehran, Islamic
Republic of Iran.
Among numerous etiologic factors, chromosomal aberrations play a
prime role in male infertility accompanied by abnormal semen . The patients
with most severely compromised sperm counts have sex chromosome
aberrations including aneuploidy and the presence of marker
chromosomes . Some patients have evidence of mosaicism as detected
in their peripheral blood karyotypes . Here, we report a 28-year-old
patient with a rare sex chromosome mosaicism . His chief complaint
was infertility secondary to azoospermia . Chromosome investigations
were performed on cultures of peripheral blood lymphocytes using
GTG-banding and HR-banding techniques . His karyotype showed:47,
XXY / 47, XYY / 48, XXYY . The origin of the error that leads to this
mosaicism is likely to be paternal nondisjunction at meiosis I in one
cell lineage, at meiosis II in the second line, and at both meiosis I and
meiosis II in the third cell lineage . This was the only case with this kind
of mosaicism observed during the last 20-years of work in our Department,
and no similar cases were found in the literature .
P02.223
20-year chromosomal studies among the iranian infertile men
C. Azimi, M. Khaleghian, F. Farzanfar;
Department of Genetics, Cancer Institute, Imam Khomeini Medical Center,
School of Medicine, Medical Sciences / University of Tehran, Tehran, Islamic
Republic of Iran.
Chromosomal aberrations have been postulated to be as one of the
principal genetic factors in male infertility and occur in about 2-3 %
of unselected patients with proven subfertility . This rate is estimated
to be 5-7 % in patients with oligozoospermia and increasing to 10-15
% in patients with azoospermia . In this 20-year retrospective study
we investigated 829 men which were referred to our Department due
to infertility . Karyotyping was performed on peripheral blood lymphocytes
according to standard methods .Out of 829 patients, 557 patients
(67 .19 %) had a normal karyotype and 272 patients (32 .81 %) showed
abnormal chromosomes .Klinefelter syndrome, found in 195 patients
(23 .52 %), was the most frequent aberration in our study .The remaining
77 cases ( 9 .29 %) showed the following abnormal karyotypes:
Karyotype Number
47, XXY 195
48, XXYY 4
mos48, XXYY/47, XXY/47,XYY 1
mos48, XXXY/47, XXY/46, XY 4
mos47, XXY/46, XY 9
mos45, X/46, XY 7
mos47, XXY/ 46, XX/46 .XY 7
mos46,XX/46 .XY 5
mos45, X/46, X, del(Y)(q10) 2
mos47, XXY/45, X/46 .XY 4
mos46,XY, t(7;13)/46, XY 1
47, X, i(X)(q10)Y 3
46, X, add(Y)(p11 .3) 7
46, X, del(Y)(q11) 6
46, X, r(Y) 2
47, X, t(X;Y)(q10 q10) 2
46, X, t(Y;14) 2
46, XY, t(14;22) 1
47, XYY 2
46, XX (sex reversal) 5
46, XY, inv(9) 3
Total 272
P02.224
Analysis of heteroploidy frequency in sperm from man with
chromosome rearrrengmants
I. Fedorova 1,2 , E. Shilnikova 2 , O. Chiryaeva 1 , L. Petrova 1 , V. Dudkina 1 , T.
Smirnova 3 , M. Bogdanova 3 ;
1 Ott’s Institute of Obstetrics and Gynecology, St-Petersburg, Russian Federation,
2 St-Petersburg State University, St-Petersburg, Russian Federation, 3 Medical
centre “InAlMed”, St-Petersburg, Russian Federation.
Structural chromosome aberrations detected on metaphase plates
from peripherial blood limphocytes lead to increased risk of chromosome
abnormal progeny . Analysis of chromosome segregation in sper-