2009 Vienna - European Society of Human Genetics

Cytogenetics
cially in chromosome 4. Supported in parts by Prochance 2008 of the
Friedrich Schiller University Jena 21007091 and DFG (LI 820/14-1).
P03.108
Girl with left hemiatrophy reveals confined mosaicisms for r(13)
in fibroblasts
U. Altunoğlu, B. Karaman, S. Basaran, H. Kayserili;
Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics,
Istanbul, Turkey.
In the background of pigmentary skin anomalies or asymmetry (usually
encountered in the form of hemihypertrophy) when combined with
seizures and mental retardation, mosaicism for somatic chromosomal
rearrangements should be searched for.
We report a seven-year-old girl with total left hemiatrophy, microcephaly,
facial dysmorphism and neuromotor retardation. The face
was asymmetric with ipsilateral microphtalmia and iris coloboma.
Hypertelorism and low-set ears were also noted. Karyotype was normal
in 150 metaphases from peripheral blood lymphocytes. Cytogenetic
analysis of the cultured skin fibroblasts revealed mosaicism for
ring chromosome 13, 46,XX/46,XX,r(13)(p11q14) [35/15] on the left
side and [12/8] on the right side of the body. By FISH studies using
D13S1825 probe spesific to the q telomere of the chromosome 13, no
signal on the ring chromosome was obtained. The uncultured peripheral
blood cells were checked out with this probe, and in each of the
300 interphase nuclei, 2 signals were observed.
Hemiatrophy is a rare clinical finding, and not amongst the clinical findings
associated with partial deletions of 13q. To the best of our knowledge,
our patient is the second case for somatic mosaicism of 13q, but
unique for hemiatrophy.
P03.109
chromosomal aberrations among patients with mental
retardation
L. Minaycheva1 , O. Salukova1,2 , L. Nazarenko1 , S. Fadyushina1 , S. Vovk1 , N.
Sukchanova1 , N. Sukhanova1 , N. Torchova1 , J. Yakovleva1 ;
1 2 Institute of Medical Genetics, Tomsk, Russian Federation, Siberian State
Medical University, Tomsk, Russian Federation.
Cytogenetic investigation among children with mental retardation of
different degree was performed. In total of 40 children (fourteen girls
and twenty-six boys) aged 4-14 years were examined. For the most
part (80%) mental retardation coupled with congenital malformations
and dysmorphisms.
Cytogenetic analysis of G-differential staining chromosomes (Gbands)
has revealed abnormalities among 30 % patients. The numerical
abnormalities of sex chromosomes were detected among three
patients (25%). It was represented by monosomy and polysomy of
X-chromosome. Two patients (17%) had Fragile X mental retardation
syndrome (OMIM 300624). Structural balanced (25%) and unbalanced
(33%) chromosomal aberrations were diagnosed in other patients
(58%). In our study we found rare chromosomal rearrangements:
46,X,t(X;13)(q11;q12), 46,XX,del(18)(p1.1), 46,XX, dup(8)(q12q13).
Thus, our investigation suggested that patients with mental and speech
disabilities, autism and epileptic syndrome needs in additional examinations,
which permit hereditary to diagnose hereditary pathology.
P03.110
5p duplication syndrome: a rare multiple congenital anomalyretardation
syndrome caused by partial duplication (5) (p15.2p12)
combined with partial deletion (5) (pter-p15.31)
M. Stopar-Obreza;
University Children’s Hospital Ljubljana, University Medical Centre Ljubljana,
Ljubljana, Slovenia.
We report on an infant with multiple congenital anomalies, developmental
delay, abnormal neurological and dysmorphic signs.
He is the first and only child of a healthy nonconsanquinous parents
with no positive family history regarding congenital diseases. He’s
phenotype is characterised by failure to thrive, developmental retardation,
severe muscular hypotonia, congenital heart anomaly, agenesis
of corpus calosum, pronounced macrodolichocephaly, unusual face
with hypertelorism and bulbous nose with flat bridge, full lips, long fingers,
limb abnormalities and hearing loss. With combination of banding
studies and FISH analyses the karyotype 46, XY, der (5)dup(5)
(p15.2-p12) del(5) (pter-p15.31) was identified. This so far unpub-
lished partial duplication 5p combined with partial deletion 5p of de
novo origin is the cause of described clinical picture that is typical for
5p duplication syndrome since the critical 5p13 region is also included
in the duplication.
P03.111
Report of a dysmorphic case from IRAN with a new finding, and
structural abnormality in the long arm of chromosome 1
z. hadipour, f. hadipour, f. behjati, y. shafeghati;
genetic department ,Sarem Woman Hospital and Research center, tehran,
Islamic Republic of Iran.
Background: Partial trisomy of 1q42 is one of the structural Chromosome
abnormalities with a distinctive phenotype.
Material and Method: Here in we report a 1-year-old Iranian girl referred
to our genetics center because of neuro-developmental delay
and dysmorphic findings.
Cardinal features were: trigonocephaly, microcephaly, spastisity, sunken
eyes, prominent forehead, low set and malformed ears (with posterior
rotation and abnormal helix), micrognathia, long philtrum, carplike
mouth, frontal bossing, high palate, high nasal bridge, high arched eyebrows,
short neck, strabismus, and asymmetric face and locked jaw,
abnormal and small hands and feet, brachydactily of fingers and toes,
flat feet, congenital hearth disease, dysplastic nails, simian crease in
right hand and abnormal sole in the left hand.
Chromosme study: according to the MR, and MCA we carried out chromosome
analysis by high resolution GTG banding technique. The result
was a structural abnormality, a duplication in1q42 region. Parents
were investigated and they were normal.
Conclusion: our study showed that this chromosome Abnormality was
de novo in this case. So, we should consider structural and numerical
chromosome abnormalities in the patients, with MCA+MR. Microcephaly
is a new finding for this locus, and was not reported before.
P03.112
A case with mosaic Ring chromosome 18
H. Şamlı, A. Özgöz, F. Mutlu İçduygu, K. Hekimler, N. İmirzalıoğlu, Y. Sıvacı;
Afyon Kocatepe University, School of Medicine, Department of Medical Genetics,
Afyonkarahisar, Turkey.
The 11 year old case was the second pregnancy and the second child
of the family, was born full-term with a birth weight of 3100 g. At the
time of the birth, the age of both parents were 24. Growth retardation
of the case was realized at the age of 1,5. The case with congenital
malformation, mental retardation, short stature, high palate, pectus
excavatus, big and low set ears, bilateral strabismus, distinct front incisors,
hypertelorism, flat broad nose root, wide nostrils, long frenulum,
pes planus in both feet, overlapping of the second toe onto the third
toe, frequent infection, speech defect was operated at the age of two
due to PDA. The karyotype of the case was detected to be 46,XX/
46,XX,r(18) (25% mosaic) in the chromosome analysis performed.
The classical type of the ring chromosome formation is by the fusion of
breaks occured in both arms of the chromosome and loss of the distal
fragments. The ring of the chromosome 18 is rare among ring chromosomes.
The typical clinical signs of the 18p and 18q Syndrome rate
depend on the size of the deletions in 18p and 18q. r(18) phenotype is
characterized by growth retardation, mental retardation and non-specific
abnormalities. Facial dysmorphism and malformations may also
be associated. As a result of FISH analysis performed using Cep 18
(Aqua) ve Telomer 18q (Red) probes, the karyotype of the case was
verified to be 46,XX/46,XX,r(18) (25% mosaic).
P03.113
mandibular dysmorphology in prenatal trisomy 18
L. Caspersen1 , U. Engel2 , I. Kjaer1 ;
1 2 Department of Orthodontics, Copenhagen, Denmark, Department of Pathology,
Hvidovre University Hospital, Copenhagen, Denmark.
Introduction: Among 2nd trimester aborted foetuses, trisomy 18 is
one of the most common autosomal trisomies. By ultrasonography it
may be difficult to distinguish between trisomy 18 and trisomy 13. According
to Keeling (1994), the prenatal trisomy 18 head is globular in
shape, with hypertelorism, a broad up-turned nose, micrognathia and
backwards sloping abnormal ears. Short nasal bones have also been
reported.
The purpose of this preliminary study is to add phenotypic character-