2009 Vienna - European Society of Human Genetics

Cytogenetics
(59.390.122 to 62.021.754 Mb for 5pter, hg18). Proximal 5q cytogenetically
visible deletions including 5q12 have been reported in patients
with psychomotor retardation and multiple congenital anomalies. No
recognizable phenotype has been described but eye findings (ptosis,
epicanthus, astigmatism, esotropia and nystagmus) were observed in
these interstitial deletions. The common deleted region in our cases
includes 11 genes, some of them are listed in the OMIM database.
KIF2A, which encodes a kinesin superfamily protein, is particularly interesting
as it plays an important role in the suppression of the growth
of axonal collateral branches and is involved in normal brain development.
Ocular findings seem to be common clinical features, even if
they are not specific, in the 5q12 microdeletion. Identification of additional
cases of deletions involving the 5q12 region will probably allow
more accurate genotype-phenotype correlations.
P03.118
complex eye malformation in a fetus with trisomy 6p22p24
A. A. Aboura, C. Michot, A. C. Tabet, R. Guilherme, A. Verloes, A. Delezoide,
F. Guimiot;
Robert debré, Bd Sérurrier, France.
We report a fetus with additional material on chromosome 6p detected
on routine amniocentesis for maternal age in a 39 years old woman.
Fetal ultrasonographic examination was normal. Both parents had normal
karyotypes. A medical termination of pregnancy was performed at
31 WG. At autopsy, the fetus was eutrophic and had no major visceral
anomaly. The pancreas appeared short and the right lung was bilobed.
In the brain, olfactory bulbs were absent and there was a fusion of
meningeal membrane in the anterior part of cortex. At microscopic
examination, we found a duplication of the ependymal canal in the
lumbar region of the spine and bilateral eye coloboma with dysplastic
retina. The karyotype was: arr cgh(RP11-304M10---RP1-67M12)x3
using array-cgh BAC (4400 clones - Perkin-Elmer Cytochip).
The 6p22p24 region contained several genes, in particular KIF13A (kinesin
family member 13A) and NUP153 (nucleoporin) genes, whose
gain is known to be involved in eye malformations. We hypothesize
that overexpression of these genes may play a role in the ocular anomaly
observed in our case.
P03.119
A new case of chromosomal translocation: t(4;10)(q35;q22.1)tras
nmited from mother to daughter
E. V. Gorduza1 , L. Paduraru1 , L. Butnariu1 , M. Gramescu1 , C. Bujoran2 , M.
Panzaru1 , L. Caba1 , M. Stamatin1 , M. Covic1 ;
1 2 ”Gr. T. Popa” University of Medicine and Pharmacy, Iasi, Romania, ”Sf. Maria”
Children Hospital, Iasi, Romania.
We presented a new case with chromosomal translocation, discovered
first in a plurimalformate child. The girl is the first child of a healthy,
young, nonconsanguinous couple. The delivery was produced at term,
but child presented an intrauterine growth retardation (1400 gr weight,
46 cm height and 28 cm cranium perimeter) neonatal jaundice and
respiratory distress. The APGAR score was 4. The clinical examination
revealed: microcephaly, flat face, bilateral microophthalmia (confirmed
by ophtalmologic examination) short nose, flat, short philtrum, microretrognatia,
short neck, bilateral syndactily of II and III toes, genital hypoplasia,
and muscular hypotonia. Cardiologic examination revealed a
systolic murmur. Thorax radiography revealed a “wooden shoe heart”
with an important left ventricular hypertrophy. Echocardiography indicated
a small ventricular septal defect, open foramen ovalis, tricuspidian
insufficiency and persistence of arterial duct. The karyotype of girl
revealed an abnormal chromosomal formula: 46,XX,der(4;10)(q35;q22
.1). For establish if the abnormality is de novo or inherited we made the
chromosomal analysis in parents. The karyotype of father was normal,
but mother presented a balanced translocation: 46,XX,t(4;10)(q35;q22
.1). Because the moved fragment of chromosome 4 is very small and
moved fragment of chromosome 10 represent about half of long arm,
we estimate that couple have a 10% risk to have another abnormal
child with an important partial 10 trisomy associated with insignificant
partial 4 monosomy. For this reason we indicate a prenatal chromosomal
analysis in next pregnancies of couple. This case reveals the
importance of chromosomal analysis in neonates with plurimalformative
syndrome and parents of children with abnormal karyotype.
P03.120
Results of 3248 cytogenetic analyses: a retrospective study in
karyotype abnormalities
M. Mackic-Djurovic, I.Aganovic-Musinovic, S. Ibrulj;
Center for Genetics, Medical faculty, Sarajevo, Bosnia and Herzegovina.
Center for genetics from Medical faculty in Sarajevo have finished
3248 karyotype analyses from peripheral blood lymphocytes - and
using GTG -band technique during last ten years. 360 chromosomopathies
were reported, 254 somatic and 53 gonad aberrations. Sy.
Turner was the most frequent gonad aberration and was reported in
31 patient, Klineffelter Sy was the second most frequent gonad aberrations
and was reported in 12 patients, 4 patients were with 47,XXX
karyotype, 3 patients with testicular feminization and 3 patients with
fragile X syndrome.
From 254 somatic aberrations, trisomies including mosaic types were
reported in 228 cases and 26 were with somatic structure aberrations.
The most frequent was Sy Down (Trisomy 21) in total of 216 patients,
Sy Edwards (Trisomy 18) in 4 patients, Trisomy 13 in 2 patients and
Trisomy 22 in 2 patients. Translocations and deletions were occurring
individually and de novo, 26 of these patients were identified.
P03.121
characterization of a complex chromosomal rearrangement
involving chromosome 10.
M. De Blois1,2 , C. Hyon1 , S. Noel1 , V. Malan1,2 , S. Chevallier1 , A. Munnich1,2 , M.
Picq1 , C. Turleau1,2 , M. Vekemans1,2 ;
1 2 Necker Enfants Malades hospital, Paris, France, Universite Paris Descartes,
Paris, France.
Complex chromosomal rearrangements are rare. Here we report on
a young baby girl born at 37 weeks of gestation. On clinical examination,
the following dysmorphic features were observed: hypertelorism,
blepharophimosis, bilateral epicanthus, retrognathia and a short neck.
The mouth is small with a long and flat philtrum. She has small and
square low-set ears. The fingers are long and thin with a II-IV membranous
syndactyly and a II and V clinodactyly. Rocker-bottom feet and a
II-III syndactyly were observed. Congenital heart defects (atrial septal
defect and ventricular septal defect), abnormal genitalia (clitoris hypertrophy)
and bilateral renal dysplasia were diagnosed.
Cytogenetic analyses using G and R banding techniques identified a
der(10) chromosome. FISH study using a chromosome painting (wcp
10) probe excluded other chromosomal material in the rearrangement.
Further FISH studies using subtelomeric probes showed that on the
der(10) chromosome, 10qtel was replaced by 10ptel. In addition an
inverted duplication of the 10q25.3q26.2 region was observed. Further
studies revealed that the der(10) chromosome also underwent a
pericentric inversion (10p12.31q31.1). As parental chromosomes were
normal, the child’s karyotype was interpreted as : 46,XX,der(10)del(q2
6.3)dup(q26.2q25. 3)dup(pter)inv(10)(p12.31q21.1) de novo.
In summary we report on a dysmorphic child carrying a de novo inverted
duplication associated with a deletion of the 10qtel. From previous
publications one can correlate the child’s phenotype to the inverted
duplication of the 10q25.3q26.2 region.
Finally as 10ptel material replaced 10qtel material, we propose that a
transient ring chromosome 10 was formed to stabilize 10qtel.
P03.122
investigation of cytogenetic causes of congenital heart disease
in Pediatric cardiology clinic tg mures, Romania
C. Banescu 1 , R. Toganel 2 , I. Pascanu 1 , K. Csep 1 , C. Duicu 3 ;
1 Genetic Department, University of Medicine and Pharmacy, Tg. Mures, Romania,
2 Pediatric Cardiology Clinic, University of Medicine and Pharmacy, Tg.
Mures, Romania, 3 Pediatric Department, University of Medicine and Pharmacy,
Tg. Mures, Romania.
Objective: The aim of this study was to investigate chromosomal abnormalities
in children with congenital heart disease (CHD) from the
Pediatric Cardiology Clinic Tg Mures, Romania.
Material and method: 70 children with CHD were included in this study
over a period of 2 years (2007-2009). The study included children with
a diagnosis of congenital heart disease confirmed by postnatal echocardiography.
In cultured lymphocytes obtained from peripheral blood,
the chromosomes were stained by the GTG banding technique. Chromosome
analysis was performed following ISCN guidelines.
Results: Of the 70 cases studied, 42 (60%) patients revealed obvi-