2009 Vienna - European Society of Human Genetics

Cytogenetics
9p duplication. This case highlights the importance of using combined
molecular and cytogenetic techniques for accurate characterization of
rare chromosomal rearrangements in order to make possible genotype-phenotype
correlations and to understand the genetic mechanisms
involved.
P03.137
clinical caracteristics of sindrome 47, XY + 18 AND 47, XX + 18 /
46, XX
I. Aganovic-Musinovic, S.Ibrulj, Z. Seremet, M. Mackic-Djurovic;
Center for Genetics, Medical faculty, Sarajevo, Bosnia and Herzegovina.
In Center for genetics during the last 10 years we had three cases of
Sy Edwards, two boys and a girl.
Boys had trisomy 18., while a girl had mosaic type of trisomy 18; 47,
XX + 18/ 46, XX. All died within first two months of life. By comparing
the clinical caracteristics of these three patients, we evaluated the
intensity of caracteristic symptoms and their influence on overall survival.
Phenotype did not vary significantly, all of them had typical hand position
with 2. over 3. and 5. over 4. finger; rest of caracteristics were
identical at the boys. Girl with mosaic type of this trisomy did not have
: microghnaty, irregular formed ears and insert nose base.
P03.138
A male with balanced reciprocal translocation t(5;11)(q32;q24.2)
and situs inversus: case report
A. Kamaran 1 , D. N. Binici 2 , I. Doru 3 , M. E. Kabalar 4 , N. Gunes 5 ;
1 Department of Medical Genetics, Erzurum Nenehatun Obstetrics and Gynecology
Hospital, Erzurum, Turkey, 2 Department of Internal Medicine, Erzurum
Training and Research Hospital, Erzurum, Turkey, 3 Department of Radiology,
Erzurum Training and Research Hospital, Erzurum, Turkey, 4 Department of
Pathology, Erzurum Training and Research Hospital, Erzurum, Turkey, 5 Department
of Family medicine, State Hospital, Igdir, Turkey.
Situs inversus is a condition in which the organs of the chest and abdomen
are arranged in a perfect mirror image reversal of the normal
positioning. The condition is in about 1 in 8,500 people. Although the
mechanism that causes the heart loop to go left is not fully understood,
at least one gene has been identified to have a role in this process.
However, it is thought that many factors may be involved in causing
situs inversus. The case was 35 years age and single person. In the
imaging studies, his heart was on the right (dextrocardia), his liver
was on the left, and his spleen was on the right. Cytogenetic study
showed that man carried balanced reciprocal translocation: 46,XY,
t(5;11)(q32;q24.2) in the man. He had no dismorphism, but he had
chronic gastritis and chronic esophageal acid reflux. Here we report a
case with balanced reciprocal translocation and situs inversus.
P03.139
Confirmation of the assignment of Steinfeld syndrome to the
long arm of the chromosome 13.
C. Coubes 1 , M. Perez 1 , A. Schneider 2 , J. Puechberty 1,2 , M. Tournaire 2 , A. Ménard
3 , N. Friès 3 , A. Couture 4 , A. Chaze 2 , L. Pinson 1 , P. Blanchet 1 , P. Sarda 1 , G.
Lefort 2 , D. Geneviève 1 ;
1 Service de Génétique Médicale et de Foetopathologie, Hôpital Arnaud de Villeneuve,
Université Montpellier 1, Faculté de Médecine de Montpellier-Nîmes,
CHRU de Montpellier, Montpellier, France, 2 Service de Cytogénétique, Hôpital
Arnaud de Villeneuve, CHRU de Montpellier, Montpellier, France, 3 Centre Pluridisciplainaire
de Diagnostic Prénatal, Maternité, Hôpital Arnaud de Villeneuve,
CHRU de Montpellier, Montpellier, France, 4 Service de Radiologie Pédiatrique,
Hôpital Arnaud de Villeneuve, CHRU de Montpellier, Montpellier, France.
Steinfeld syndrome is a rare entity described in only seven patients. It
is characterized by multiple congenital anomalies namely holoprosencephaly,
limb defects including thumb agenesis of the four extremities,
dysmorphic signs (hypotelorism, microphthalmia, cleft lip/palate), and
variable kidney and heart malformations. Differential diagnosis is represented
by Garcia-Lurie syndrome also named XK aprosencephaly.
Molecular bases of Steinfeld syndrome remain unknown but a pure
13q31.1-13qter deletion has been described in one foetus presenting
with this disorder. The authors discuss on a possible contiguous
gene deletion encompassing the ZIC2 (involved in isolated cases of
holoprosencephaly), GPC5 and EFNB2 genes, and speculate on the
possible involvement of these genes in the phenotype.
Here, we report on a foetus with clinical and radiological features that
full fit the diagnostic criteria for Steinfeld syndrome. Chromosomal
studies reveal an unbalanced chromosomal anomaly inherited from
the mother resulting in a 13q22-13qter deletion and a partial 1q32-
1qter trisomy. This result confirms the assignment of Steinfeld syndrome
to the long arm of the chromosome 13. FISH study using a
specific probe shows a deletion of the ZIC2 gene. High resolution SNP
array study (Affymetrix SNP array 6.0) is in progress to determine the
exact size of the deletion in an attempt to discuss the molecular assignment
of the genes involved in Steinfeld syndrome.
P03.140
tetrasomy 9p: case report of a child with mild phenotype
M. Sá1 , G. Soares1 , I. Teixeira2 , S. Pires1 , N. Oliva Teles1 ;
1Centro de Genética Médica Doutor Jacinto Magalhães - INSA, I.P., Porto,
Portugal, 2Hospital Santa Maria Maior E.P.E., Barcelos, Portugal.
Background
Tetrasomy 9p is a rare dysmorphic syndrome with approximately 40
cases described to date, both mosaic and non-mosaic cases. We report
a 3 years old child who has a mosaic isochromosome 9p detected
postnatally. Clinical findings and cytogenetic results are presented and
compared to reports of mosaic patients previously published.
Case Report
Second son of non-consanguineous healthy parents, with an irrelevant
family history. The mother was 39 years-old at the date of the birth.
No foetal anomalies were detected by repeated ultrasounds. Physical
examination at birth revealed normal somatometry and cleft lip.
Growth retardation, global mild psychomotor delay, hydronefrosis and
hydrocele were noted later. At a Medical Genetics consultation facial
dysmorphic features were observed. Height and weight under the 5th
centile, microcephaly, and small hands were confirmed.
Cytogenetics Analysis
GTG-banded chromosome study from lymphocyte cultures of the patient
revealed mos 47,XY, +i(9)(pter->p10::p10->pter)[25]/46,XY[5].
This supernumerary structurally anomalous chromosome contains a
mirror duplication of the short arm of chromosome 9, with one centromere.
Parental karyotypes were normal.
Discussion
Most secondary isochromosome formation originates from primary trisomy
9 due to maternal meiosis II nondisjunction. Isochromosome for
the short arm is often found in mosaicism, since it results of a telocentric
chromosome with centromere instability. Mosaicism of tetrasomy
9p presents genetic counselling problems, especially if it is de novo
and diagnosed prenatally. The extent of mosaicism does not allow predicting
severity of phenotype, but mosaic cases tend to have increased
probability of survival compared to non-mosaic cases.
P03.141
two new cases of mosaic tetrasomy 9p with moderate
craniofacial dysmorphism and mild mental retardation
L. Elkhattabi 1 , A. C. Tabet 2 , C. Le Long 2 , M. L. Maurin 2 , A. Verloes 2 , A. Aboura 2 ;
1 Hopital Robert Debré, Paris, France, 2 Robert debré, Bd Sérurrier, France.
Tetrasomy 9p is a rare chromosomal aberration leading to a syndrome
resembling to trisomy 9p with additional clinical features and more
severe phenotype. The recurrent breakpoints have been defined with
conventional cytogenetic (9p12, 9q12; and 9q13). To date, only about
45 cases have been described. We review here two new cases of mosaic
tetrasomy 9p, whose rearrangements have been further investigated
by CGH-array (Bac clone 4400 Cytochip Perkin Elmer).The first
one is a five-year-old boy presenting a typical phenotype with mental
delay and facial dysmorphy, and subnormal mental development. The
second one is a fifteen-year-old girl with moderate facial dysmorphy
and no mental retardation. We have mapped the breakpoints in both
cases and have compared the molecular data of our patients with published.
We discuss genotype-phenotype correlation in the light of the
precise breakpoints of our patients.