2009 Vienna - European Society of Human Genetics

Cytogenetics
karyotype revealed a partial trisomy of chromosome 2p and was noted
as 46,XX,inv dup(2)(p23p25.2). The parents had normal karyotypes.
According to the clinical picture and the karyotype, the patient was
considered to be a novel case of partial trisomy 2p and fluorescence in
situ hybridization (FISH) and array comperative genomic hybridisation
(aCGH) studies were planned for revealing the exact breakpoints.
P03.037
Abnormal karyotype rate in men from infertile couples
I. D. Fedorova 1,2 , E. M. Shilnikova 2 , O. G. Chiryaeva 1 , L. I. Petrova 1 , V. S. Dudkina
1 , N. A. Sadik 1 , M. A. Bogdanova 3 , T. V. Kuznetzova 1 ;
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.
Assisted reproductive technologies (ARTs) allows to overcome infertility.
Many cases of idiopathic infertility due to numerical and structural
chromosome abnormalities result in unbalanced karyotype in
offspring.
We aimed at evaluation of abnormal karyotype rate in men from infertile
couples. The examined cluster totaled 113 individuals. Patiens
were subdivided into 6 groups according results of semen analisys
(WHO criteria): 15 azoospermia, 43 oligoasthenoteratozoospermia
(OAT), 4 oligoteratozoospermia (OT), 39 asthenoteratozoospermia
(AT), 1 asthenozoospermia (A), 11 teratozoospermia (T).
Karyotyping, performed on QFH-banded metaphase chromosomes
from peripheral blood lymphocytes, revealed chromosome abnormalities
in 8,84% of subjects. Two chromosome aberrations were detected
in azoospermia group: 46,X,t(X;Y) and 45,X[25]/46,XderY[75]. 6 abnormal
karyotypes with 3 of them as robertsonian translocations carriners:
45,XY,der(13;14)(q10;q10 )were detected In individuals with low
spermatozoa count (OAT and OT). One abnormal chromosome have
been registered In men with AT Chromosome polymorphism was detected
in 17% among OAT and OT men and in 25,64% in AT men.
Our results prove the importance of karyotyping of men nominated for
ARTs
P03.038
the clinical effects of isochromosome Xq in Klinefelter
syndrome: Report of a case and review of literature
A. Pazarbasi 1 , O. Demirhan 1 , N. Tanriverdi 1 , A. Aridogan 2 , D. Karahan 1 ;
1 University of Çukurova, Faculty of Medicine, Dept. of Medical Biology, Adana,
Turkey, 2 University of Çukurova, Faculty of Medicine, Dept. of Urology, Adana,
Turkey.
We describe a male with a variant Klinefelter syndrome, and trisomy
Xq resulting from an isochromosome Xq [47,Xi(Xq)Y]. He had many
characteristics of classical KS: bilateral atrophic testes and microcalcifications,
normal masculinization, azoospermia, hipergonadotropic
hipogonadism elevated FSH and LH, normal intelligence, microcalcifications
and normal androgenization, but his stature was not increased.
Ultrasonographic evaluation also revealed parenchymal alterations
secondary to previous epididymo-orchitis. After initial evaluation the
patient underwent incisional biopsy of testes which showed tubular
hyalinisation, Leyding cell hyperplasia and sertoli cell only syndrome.
The i(Xq) found in all cells analyzed. These findings indicate that extra
copies of the long arm of X have phenotypic expression, even though
activated only in early development. In conclusion, review of literature
on 20 adult patients support the view that the presence of an isochromosome
Xq in KS has a favorable prognosis in terms of normal mental
development and normal stature. This case provides an opportunity to
study the effect of the isochromosome Xq on the phenotype.
P03.039
chromosomal alterations and micronuclei frequencies in
smokers who were occupationally exposed to lead in tamilnadu
region, india
V. Balachandar, P. Manikantan, S. Mohanadevi, R. sangeetha, K. sasikala, A.
Karthik Kumar, M. Arun;
Bharathiar University, Coimbatore, India.
Lead poisoning is an environmental and public health hazard of global
proportions also tobacco smoking is the main cause of mortality worldwide.
The focal aim of the present study was to identify the CA and
MN frequencies in cigarette smokers chronically exposed to lead. For
this purpose, totally 39 smokers who were worked with lead based
industries and 39 controls were selected. By use of metaphase analysis
with conventional Giemsa-staining, present study investigated both
the groups. After signing a consent form, volunteers provided blood
samples (5 ml) to establish cell cultures at 72 h.
The lymphocyte count in the Experimentals, except Group I of printing
press and Group III of petrol sniffing subjects exhibited elevated values
when compared with those of the Controls. The increase in values of
Experimentals was statistically significant. MN frequency was higher
in exposed workers than in controls and smoking status significantly
raised MN frequency among the exposed workers but not among controls.
In the present study, the incidence of MN in peripheral lymphocytes
from workers exposed to smoking was over twice as high in the
controls (P