2008 Barcelona - European Society of Human Genetics

Cytogenetics
P02.215
cytogenetic analysis of turner syndrome
L. Letica, R. Lasan, I. Tonković Đurišević, K. Crkvenac Gornik, M. Burek, D.
Begović;
Division of Genetics and Metabolism, Department of Pediatrics, University
Hospital Centre, Zagreb, Croatia.
Turner syndrome is caused by the absence of all or part of the second
sex chromosome . In our study on 100 female patients clinically diagnosed
with Turner syndrome:
46 patients were 45,X
10 patients were mos 45,X/46, XX
2 patients were mos 45,X/47, XXX/46,XX
8 patients were mos 45,X/47, XXX
31 patients had a structurally abnormal X chromosome (mainly isochromosome,
deletion p or q arm, ring X chromosome) and 2 patients
had a structurally changed Y chromosome
The phenotype is variable and includes short stature and gonadal dysgenesis
. Mental retardation is not a feature of Turner syndrome .
Conventional cytogenetical G-banding method and Fluorescence in
situ hybridization technique were considered in cultured peripheral
blood .
Postnatal recognation of the syndrome requires genetic counselling of
parents and supportive multidisciplinary treatment .
P02.216
the importance of women karyotyping in assisted reproduction
G. Ozgon 1 , O. Oner 1 , C. Aslan 1 , B. Onal 1 , F. Fiorentino 1 , G. Karlikaya 2 , H. Karagozoglu
2 , S. Kahraman 2 ;
1 Genoma Turkey, istanbul, Turkey, 2 Memorial hospital, istanbul, Turkey.
INTRODUCTION: Recent researches show that the infertility is related
to both male and female genetics . Patients, who applied to our center,
evaluated according to their indication and karyotypoes .
Karyotpye analysis was applied for the patients with the indication
such as; recurrent implantation failure (RIF), recurrent pregnancy lost
(RPL), male factor and abnormal fetus history, female factors (primary
amenore) .
In this study, we aimed to demonstrate karytopes evaluation of the
women who were referred to our cytogenetics laboratory .
MATERIAL- METHOD: Chromosome preparations were made from
72-h PHA-stimulated cell cultures from peripheral blood . Cell division
was synchronized by a pulse of thymidine administered 21 h prior to
harvesting . The thymidine block was released by washing the cells in
fresh culture medium (RPMI 1640),also prewarmed to 37°C, for 3,5 h
prior to harvesting . The culture was harvested using colcemid for 50
min prior to harvesting . At least 20 GTG-banded (Giemsa stain) metaphase
cells were analyzed for each patient .
RESULTS:
Table 1
Indications Total Normal
RIF 360 342
Mosaic X (n=15)
inv(9) (n=7)
inv(10) (n=1)
balanced translocation (n=4)
RPL 308 282
Translocation carrier (n=10)
Inversion (n=6)
Mosaic X (n=8)
mar (n=1)
Male Factor 44 43 Mosaic X (n=1)
Abnormal Fetus
Story
24 23 Balanced translocation (n=1)
Female Factor 18 18
Table 2
PGD Candidates’
Indications(n=261)
Total
Normal
Karyotype
AMA 60 56 Mosaic X (n=4)
RPL 24 23 Mosaic X (n=1)
RIF 82 77 Mosaic X (n=5)
Male Factor 27 27
Translocation Carrier 43 6
Mosaic X(n=2)
Translocation carriers
(n=37)
DISCUSSION: This study provides the importance of chromosome analysis for female
patients applied to IVF center who had the infertility indications mentioned above.
According to results, patients who were resulted as translocation carriers were suggested
to undergo PGD.
P02.217
case report: a balanced translocation between chromosome X
and 13
L. Minaycheva, N. Sukhanova, L. Nazarenko, S. Vovk, V. Timoshevsky, I.
Lebedev;
Institute of Medical Genetics, Tomsk, Russian Federation.
We report a 1 year and 9 months patient who was referred to the
Tomsk Institute of Medical Genetics with the diagnosis of multiple
congenital malformations and neuropsychic development delay . She
had microcephaly, deformation and asymmetry of the skull, absence
of the part of the left parietal bone . Flat, wide and protuberant bridge
of nose («the Greek profile»), hypertelorism, epicantus and bilateral
cleft palate were observed. Palpebral fissures of the various size were
located asymmetrically . The philtrum was short and exposed the upper
incisors that were set in a “rabbitlike” forward slant . Deep neurologic
and behavioral development delay and epilepsy were noted . Standard
cytogenetic analysis have revealed a balanced rearrangement:
46,X,der(X)(pter→Xcen),t(X;13)(Xqter→Xq12::13cen→13qter), -13.
Dual-colour FISH with DXZ1 and D13Z1/D21Z1 probes allowed to refine
localization of centromeres in chromosomes involved. As a result
two derivatives were described. The first was presented by der(X) with
short arm of X-chromosomes and centromeric heterochromatin . The
second one was a consequence of translocation between long arms
of chromosomes X and 13. The influence of both derivatives to phenotype
can be realized through two mechanisms, including manifestation
of X-linked recessive mutations under releasing of X-inactivation and
spreading of X-inactivation to autosomal segment with subsequent
functional monosomy . Our patient has not revealed any symptoms
of X-linked disease but clinical features of partial monosomy 13 . This
finding allows to suggest X-inactivation spreading mechanism that is
under investigation .
P02.218
A report of a XYY man with mental retardation, prognathism, and
short stature
S. Akbaroghli 1 , F. Mahjoubi 2,3 , M. Akbary 4 ;
1 Dr. Akbaroghli Genetic Counseling Centre, Tehran, Iran, Tehran, Islamic
Republic of Iran, 2 NIGEB, Tehran, Islamic Republic of Iran, 3 3Tehran Medical
Genetic Laboratory, Taleganee St, Tehran, Iran, Tehran, Islamic Republic of
Iran, 4 Medical Genetic Dept., Tarbiat Modaress University, Tehran, Iran, Tehran,
Islamic Republic of Iran.
Here we report a 24-year-old man referred to our laboratory for evaluation
of possible Fragile X syndrome on the basis of mental retardation .
The patient was found to be negative for Fragile X . But he was found to
be 47 XYY from chromosomal examinations . On clinical examination
the patient was found to have dysmorphic facial features, prominent
ears, long fingers, short stature, crowded teeth, high arched palate,
prognathism, low nasal bridge, large testes, and speech problem .
We have reported previously another case of XYY male with mild mental
retardation, prognathism and malformation of nails and hands . The
common features of this new case with the previous one are mental
retardation and prognathism .
P02.219
Prevalence of gr/gr deletion among Iranian azoospermic infertile
men
S. Rahmani 1 , H. Fazli 2 , R. Mirfakhraie 1,3 , M. Montazeri 1 , M. Golalipoor 4 , J. Jafari
Aghdam 5 , S. M. Kalantar 2 , F. Mirzajani 3 ;
1 Islamic Azad University of Tehran, Science & Research Campus, Tehran, Islamic
Republic of Iran, 2 Research & Clinical Centre for Infertility, Yazd, Islamic
Republic of Iran, 3 National Institute For Genrtic Engineering & Biotechnology,
Tehran, Islamic Republic of Iran, 4 Grgan University of Agricultural Sciences &
Natural Sciences, Gorgan, Islamic Republic of Iran, 5 Islamic Azad University,
Tehran North Unit, Tehran, Islamic Republic of Iran.
Number of microdeletion in the AZF locus of Y chromosome which
itself is divided in to three discrete regions (AZFa, AZFb and AZFc) has
been demonstrated to play important role in impaired spermatogenesis
. The most frequent deletions are known to be occurred in AZFc