European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Cytogenetics
solved after CCT analysis.
M-FISH analysis resolved 100% chromosomal aberrations that had
been misclassified by CCT analysis and masked as additional material
(adds) on unbalanced derivate chromosomes and marker chromosomes.
Chromosomes preferentially involved in karyotipic aberrations were
4, 8, 3, 5, 6 and 7 (in decreasing order). Breakpoints included 4q11,
4q31, 8q12~q13, 3q27, 5q23, 6q14 and 7q31.
In conclusion, M-FISH represent an essential tool for clarifying karyotypes
with abnormalities that are not completely defined by CCT. In
this sense, accurate cytogenetic characterization using a combination
of M-FISH and CCT in DLBCL cases will facilitate comprehensive correlation
with clinical features.
P0359. Three patients with primary macroglobulinamia, strongly
seropositive to Hp infection and t(11;18)(q21;q21)
S. N. Kokkinou, K. Tzanidakis, A. Lindou, K. Pavlou, H. Alafaki, G. Floropoulou,
R. Hatzikyriakou, A. Haralabopoulou, G. Drosos;
Cytogenetic Unit, Halandri Athens, Greece.
Introduction: Primary macroglobulinemia (PMG) is a proliferative disorder
of an IgM producing B-cell clone with bone marrow infiltration
by small lymphoid cells, plasma cells, anemia, hepatosplenomegaly,
and hyperviscocity syndrome. On the other side Hp chronic infection
can produce a MALT type lymphoma of the stomach, B-cell origin
in which commonly the MALT1 gene(18q21) is fused to the AP12
gene(11q21).
Aim of the study: We report 3 cases of PMG with t(11;18)(q21;q21)
who were strongly seropositive to Hp. Our report demonstrates that
part of PMG is the result of chronic Hp infection.
Patients: 1 st patient: A man 47y with diplopia.
2 nd patient: A man78y with mild anemia.
3 rd patient: A woman 80ywith severe bone pain.
By immunoelectrophoresis all had IgMk paraproteinemia.
Their bone marrow was infiltrated by 10% abmormal lymphoid cells
CD5- and CD10-.
Upper gastrointestinal endoscopy with biopsy showed small
Bcells[L26+,CD3-] and Tcells[CD3+,L26-]
Serum antiHp IgG and IgA titers were increased.
Methods: Bone marrow specimens and PB lymphocytes were cultured
using standard techniques.Thirty GTG banded metaphases were analyzed
(ISCN1995).
FISH was performed using the LSIAP12/MALT1 t(11;18)(q21;q21)
dual color, dual fusion translocation probe (VYSIS).
Results: The karyotypes looked normal.With FISH we evaluated as a
translocation a one orange(MALT),one green(AP12) and two fusion
(AP12/MALT) signal pattern.
Two hundrend interphase nuclei were counted.Up to 15% of the cells
carryied the translocation.
Conclusions: 1) PMG cases with t(11;18)(q21;q21) are clinically distinct
from other B-cell origin cases with this translocation. 2) Since
PMG and MALT lymphomas are of B-cell type and share the same
t(11;18)(q21;q21) it is suggestive that the chronic Hp infection can
result to an abnormal proliferation of lymphoplasmacytic cells and to
participate in the machanism of lymphomagenesis.
P0360. Cytogenetic abnormalities in male infertility
D. Ercal 1 , Z. O. Dogan 2 , M. Akgul 3 , C. Gunduz 2 , O. Cogulu 4 , C. Ozkinay 3 , F.
Ozkinay 4 ;
1 Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Izmir,
Turkey, 2 Ege University, Faculty of Medicine, Department of Medical Biology,
Izmir, Turkey, 3 Ege University, Faculty of Medicine, Department of Medical
Genetics, Izmir, Turkey, 4 Ege University, Faculty of Medicine, Department of
Pediatrics, Izmir, Turkey.
Infertility is the inability to get pregnant after trying for at least one
year without using birth control methods. About 25 percent of couples
experience infertility at some point in their lifes. The incidence of infertility
increases with age. The male partner contributes to about 40 percent
of cases with infertility. This is a serious problem which concerns
families in respect of economical and spiritual aspects. Recently the
medical developments in the diagnostic procedure of those cases with
infertility provided opportunities for the families. There are several reasons
that cause male infertility. The most common reason is varicosele
in male infertility which is followed by sex chromosome abnormalities.
11
In this study we aimed to evaluate the postnatally screened karyotype
results in the individuals who were referred to our department due to
primary infertility between 2000-2006 years in Izmir. A total of 179 cases
with infertility were evaluated retrospectively in our study. The mean
age was 35.00±6.06 years. Twenty out of 179 (11.17%) cases showed
chromosomal abnormality. Thirteen (7.3 %) were 47,XXY, 3 (1.68%)
were 46,XY,inv(9) (p11;q13), one (0.56%) 46,XY/45,XO, one (0.56%)
46,XY/47,XXY/48,XXXY, one (0,56%) 46,XY,t(X;1) and one (0,56%)
46,XX. In conclusion we point out the importance of cytogenetic evaluation
in those cases with infertility.
P0361. Y chromosome abnormalities and male infertility
S. K. Murthy 1 , A. K. Malhotra 1 , P. S. Jacob 1 , S. Naveed 1 , E. E. M. Al-Rowaished
1 , S. Mani 1 , S. Padariyakam 1 , A. Ridha 2 , M. T. Al-Ali 1 ;
1 Genetics Department, Al Wasl Hospital, DOHMS, Dubai, United Arab Emirates,
2 Pathology Department, Dubai Hospital, DOHMS, Dubai, United Arab
Emirates.
Genetic component is responsible for about 15% of male infertility.
Among them, constitutional chromosomal abnormalities are found
in about 5% of oligozoospermic men and 15% of azoospermic men.
Males attending the infertility clinic and seeking for assisted reproductive
techniques (ART) are routinely referred to our center for genetic
testing. During the year 2006, 7/33 males (21.2%) with infertility were
found to have chromosome abnormalities; four with 47,XXY, three with
structural abnormalities of the Y chromosome and none with Y microdeletion
for SRY, AZF and DAZ regions by PCR. Routine G-banding
and appropriate FISH tests were carried out, and the karyotypes of the
three cases with Y chromosome abnormalities were confirmed as :
Case 1 : 45,X,der(18)t(Y;18)(pter-p10::q10-qter).ish der(18)idic t(Y;18
)(p10;q10)(SRY+,DYZ3+;D18Z1+)[80]/ 46,XY,i(18)(q10).ish Y(SRY+),
i(18)(D18Z1+)[20]
Case 2 : 46,X,idic(Y)(qter-p11.32::p11.32-qter).ish idic(Y)(CEP
Y++,SRY++)
Case 3 : 47,XYY[10]/46,XY[40]
Dicentric Y is the most common rearrangement of the Y chromosome,
with varying break point regions, and is mostly present as part of a
mosaic karyotype. However, Only 5 cases of isodicentric Y with breakpoint
at Yp11.32 are reported so far. We found a similar karyotype in
an azoospermic male (case 2) but surprisingly non-mosaic. This could
possibly be a germinal or a very early mitotic event. Since the entire
Y chromosomes are present in this rearrangement, it is genetically
similar to the XYY individuals. Case 1 was predominantly monosomic
for 18p and loss of Yq, and presented with mild dysmorphic features
and rudimentary gonads. The genetic findings, genotype-phenotype
correlation and possible reproductive options in the three cases are
discussed.
P0362. Supernumerary marker chromosomes derived from
chromosome 15
I. Marco1 , E. Arranz1 , O. González1 , S. Ramiro1 , C. Blas1 , M. Calderón1 , A.
Fernández-Jaén2 , M. Renedo1 ;
1 2 Gemolab, Madrid, Spain, Servicio de Neurología.Hospital de la Zarzuela,
Madrid, Spain.
Supernumerary chromosomes markers (SMCs) of chromosome 15
are the most common SMCs in human accounting for 60% of all those
observed. Molecular cytogenetics methods are necessary to identify
these additional chromosomal markers. Conventional cytogenetics
techniques are limited in terms of providing the necessary information
about their origin. We present two cases, initially studied with standard
GTG banding technique followed by complementary C-banding and
NOR-staining.
Case 1: 47, XY, +mar Clinical features: Infertility
The marker is dicentric and with the application of M-FISH we identify
that the marker was der (14) or der(15). Using specific centromeric
FISH probes we were able to identify that it was derived from chromosome
15.
The patient is infertile.
Case 2: 47, XY, +mar Clinical features: autism
The marker is dicentric and using PW/AS FISH probe we have detected
that the marker was duplicated for this region, then the patient
presents parcial tetrasomy for chromosome 15. Microsatellite analysis
of the 15q11-q13 region is undertaken.
The comparison of the clinical data of our patients with those with simi-