2008 Barcelona - European Society of Human Genetics

Cytogenetics
P02.191
Reciprocal translocations 10;18 in a patient with miscarriages,
menstrual and speech problems
A. Faraj Pour, C. Azimi;
Department of Genetics, Cancer Institute, Imam Khomeini Medical Center,
School of Medicine, Medical Sciences / University of Tehran, Tehran, Islamic
Republic of Iran.
Reciprocal translocations are usually an exchange of material between
nonhomologous chromosomes . They are found in about 1 in 600 human
newborns . Such translocations are usually harmless and may be
found through prenatal diagnosis . However, carriers of balanced reciprocal
translocations have increased risks of creating gametes with
unbalanced chromosome translocations leading to miscarriages or
children with abnormalities . Translocation between chromosomes 10
and 18 is very rare . A few reports have been published up to now including
one in a patient with two miscarriages and another in a patient
with juvenile neuronal ceroid-lipofuscinosis (Batten disease) . Our case
was a 24 year-old woman who was referred to our Department due to
two miscarriages . She had also speech problems including stuttering
and irregular menstrual periods . She has no problems in lips, teeth,
jaw, nose, palate and hearing . Sonograghy of her uterus and ovaries
was normal, and also her hormones were within normal range .
Family information revealed only stuttering in her uncle . Chromosomal
analysis was made on her lymphocytes, using the standard banding
techniques . Her karyotype was: 46, XX, t (10:18)(p11:p11) .
P02.192
structural chromosome rearrangements in couples with
recurrent spontaneous abortions
F. Farzanfar 1 , S. Morovvati 2 ;
1 Imam Khomeini Hospital, Tehran, Islamic Republic of Iran, 2 Research Center
of Molecular Biology, Baqiyatallah Medical Sciences University, Tehran, Islamic
Republic of Iran.
Introduction: Several studies have been done to determine the contribution
of chromosome abnormalities in patient with recurrent spontaneous
abortions . In this study we present a retrospective study of the
cytogenetic data in 310 couples with recurrent spontaneous abortions
registered in Imam Khomeini hospital in Tehran .
Materials and Methods: Giemsa-banding and Reverse-banding techniques
according to standard procedures were routinely applied on
peripheral lymphocytes in all patients .
Results: In our 310 couples with recurrent spontaneous abortions,
the incidence of chromosomal rearrangements was 19 (6 .1%) . Of all
chromosomal abnormalities detected, 42% (8/19) were balanced reciprocal
translocations, 21% (4/19) were Robertsonian translocations,
16% (3/19) were para- or pericentric inversions, 10 .5% (2/19) were X
chromosome aneuploidies, and 10 .5% (2/19) were marker chromosomes
. Pericentric inv(9)(p11;q13) were excluded because they were
considered as a normal population variant .
Conclusion: In this study we found chromosomal rearrangements
in 6 .1% of our patients with recurrent spontaneous abortions which
is much higher than the incidence of chromosomal abnormalities in
general population . Also in current study the prevalence of autosomal
rearrangements in females was slightly more than males .
P02.193
clinical features of a case with ring chromosome 18
M. Zamanian 1 , F. Mahjoubi 2 ;
1 The Blood Transfusion Organization Research Center, Tehran, Iran., Tehran,
Islamic Republic of Iran, 2 The Blood Transfusion Organization Research Center,
Tehran, Iran. & National Institute for Genetic Engineering and Biotechnology,
Tehran, Iran, Tehran, Islamic Republic of Iran.
Chromosome 18 Ring is a rare disorder in which there is loss (deletion)
of genetic material from one or both ends of the 18th chromosome
and joining of the chromosomal ends to form a ring . Associated
symptoms and findings may vary greatly in range and severity from
case to case, depending upon the amount and location of lost genetic
material and other factors . A ring may also be formed without the loss
of any genetic material .
Here we report an additional case of a 14 months girl with r (18) . The
girl was born at term after an uncomplicated pregnanacy and delivery .
Birth weight was about 1 .5 kg, length 48cm, and head circumference
36cm . The girls presented hypertelorism, hypotonia, epicanthal folds,
abnormal fingers, low set ears, and abnormally growth teeth. Echocardiography
indicated dilation of the aorta .
Karyotyping after lymphocyte culture at the age of 14 months revealed
46,XX,r(18)(q21 .2qter) . The parent had normal karyotype .
The clinical feature of our case is mostly compatible with the other reported
cases of r(18) except the presence of abnormal teeth and heart
problem . This report further contribute to the clinical of the r(18) .
P02.194
A girl with ring chromosome 5
E. Dagytė1,2 , L. Cimbalistienė1,2 , V. Kučinskas1,2 ;
1Department of Human and Medical Genetics, Faculty of Medicine, Vilnius
University, Vilnius, Lithuania, 2Center for Medical Genetics at Vilnius University
Hospital Santariskiu Klinikos, Vilnius, Lithuania.
We report a girl presenting ring chromosome 5 . The girl was born of
the second pregnancy of healthy, 25 year old mother and 28 year
old father . The pedigree is otherwise unremarkable with respect to
stillbirths, malformations and mental handicap. The first pregnancy
resulted in spontaneous abortion .
The girl was born at 37 weeks of gestation . Birth weight was 1895
g, length was 43 cm, head circumference was 29 cm and chest circumference
was 26 cm . Dysmorphic features included microcephaly,
upslanting palpebral fissures, hypotelorism, microstomia, high palate,
micrognathia, short neck, hirsutism . Abdominal ultrasonography revealed
no abnormalities .
Clinical examination at 5 years of age showed weight 11,6 kg (