- Type of paper
: Book
Title: HUMAN GENETICS
- Authors:
- ZERGOLLERN, LJILJANA
- Editors
- ZERGOLLERN, LJILJANA
Publisher: MEDICINSKA NAKLADA
ISBN: 953-176-003-9
Year: 1994
Number of pages: 584
Language: hrvatski
- Type of paper
: Book
Title: MEDICAL GENETICS
- Authors:
- ZERGOLLERN, LJILJANA
- BARIŠIĆ, INGEBORG (168183)
- FOLNEGOVIĆ-ŠMALC, VERA
- KOCIJAN-HERCIGONJA, DUBRAVKA (46624)
- Editors
- ZERGOLLERN, LJILJANA
Publisher: ŠKOLSKA KNJIGA
ISBN: 953-0-31524-4
Year: 1994
Number of pages: 816
Language: hrvatski
- Type of paper
: Book
Title: PEDIATRICS Vol 1-2
- Editors
- ZERGOLLERN, LJILJANA
- BARIŠIĆ, INGEBORG (168183)
Publisher: NAPRIJED
ISBN: 953-178-019-6
Year: 1994
Number of pages: 2111
Language: hrvatski
- Type of paper
: Paper in book
Title: GENETICS
- Authors:
- ZERGOLLERN, LJILJANA
- JURETIĆ,
- Editors
- VRHOVAC, BO2IDAR
Publisher: NAPRIJED
ISBN: 86-349-0288-9
Year: 1991
Pages: from 17 to 31
Number of references: 7
Language: hrvatski
- Type of paper
: Paper in book
Title: THE OVARY AND GENETICS
- Authors:
- ZERGOLLERN, LJILJANA
- Editors
- KURJAK, ASIM
Publisher: The Parthenon Publishing Group
ISBN: 1-85070-508-9
Year: 1994
Pages: from 65 to 83
Number of references: 65
Language: engleski
- Type of paper
: Paper in book
Title: MEDICAL GENETICS
- Authors:
- ZERGOLLERN, LJILJANA
- Editors
- KURJAK, ASIM
Publisher: GOLDEN TIME
ISBN: 953-6338-07-6
Year: 1995
Number of references: 30
Language: hrvatski
- Type of paper
: Paper in book
Title: CONTEMPORARY POSSIBILITES OF PRENATAL TREATMENT OF GENETIC
DISEASES
- Authors:
- ZERGOLLERN, LJILJANA
- Editors
- KURJAK, ASIM
Publisher: NAPRIJED
ISBN: 86-349-0264-1
Year: 1991
Pages: from 271 to 279
Number of references: 18
- Type of paper
: Paper in book
Title: HEREDITARY DISEASES IN OPHTHALMOLOGY
- Authors:
- ZERGOLLERN, LJILJANA
- Editors
- ČUPAK, KREŠIMIR
Publisher: GLOBUS
ISBN: 953-167-029-3
Year: 1994
Pages: from 795 to 811
Number of references: 7
Language: hrvatski
- Type of paper
: Paper in journal
Title: Triploidy, 69,XXX
- Authors:
- ZERGOLLERN, LJILJANA
- KURJAK, ASIM
- BUJANOVIĆ, VLADIMIR
- MIRIĆ, DANKA
- PETROVIĆ, ZVONIMIR
Journal: Gynaecol Perinatol
Number: 2,1
ISSN: 1330-0091
Volume: 1
Year: 1993
Pages: from 29 to 32
Number of references: 14
Language: hrvatski
Summary: In the Croatian medical literature there is already a case
report on the newborn with triploidy (1)*.At the end of 1992 another
severely malformed infant with cytogenetical finding of 69,XXX was born;
the child died 13.5 hours after birth. Both mothers of triploid newborns
were young and healthy (34 and 24 years). Clinically, simmilar
malformations were found in both children. A malformed face - small eyes
(microphthalmia) and hypertelorismus, together with the cleft lip and
palate, were found in the first and micrognathia in the second proband.
Anomalies of the CNS, heart and suprarenal glands were observed in both
case. The feet and hands were malformed (syndactyly of fingers III and IV
and the simian line on both palms). Placental changes were also present
with the molar degeneration in the first case ans severely enlarged villi
in the second case. Owing all these similarities, triploidy could be
considered as a syndrome. Only about 50 liveborns with triploidy have been
reported in the medical literature. The present comarative sase report aims
at drawing attention to the triploidy syndrome recorded in the Croatian
newborn population.
Keywords: triploidy, 69,XXX
- Type of paper
: Paper in journal
Title: Combined ultrasound and cytogenetic diagnosing of fetal
abnormalities
- Authors:
- ZERGOLLERN, LJILJANA
- KURJAK, ASIM
- RELJA,
- MIRIĆ, DANKA
- MARTON, ULLA
Journal: Gynaecol Perinatol
Number: 2
ISSN: 1330-0091
Volume: 2
Year: 1993
Pages: from 55 to 57
Number of references: 16
Language: engleski
Summary: Out of 2,214 second trimester prenatal diagnostic
procedures, 89 were performed in polyhydramniotic patients, while the
oligohydramnios was a reason for karyotyping in 25 cases. In 5 out of 89
polyhydramnios cases, trisomy 18 and in one case trisomy 21 were found. In
the group with chromosomal abberations (6 cases, 6,74%) the proportion of
male compared to female fetuses was 5:1. Among 25 pregnancies with the
oligohydramnios, triploidy was found in 2 cases (8,00%), presented with
69,XXX. With such a high percentage of associated chromosomal aberrations,
the polyhydramnios and oligohydramnios presence is an absolute indication
for prenatal karyotyping.
Keywords: Polyhydramnios, oligohydramnios, trisomy 18, trisomy 21, triploidy, chromosomal aberration
- Type of paper
: Paper in journal
Title: Mozaic aneuploidies with abnormal centromeric disjunction:
new mitotic mutant
- Authors:
- ZERGOLLERN, LJILJANA
- HITREC, VLASTA
- POLAK, JELENA
Journal: Paediatr. Croat.
ISSN: 1330-1403
Volume: 37
Year: 1993
Pages: from 35 to 38
Number of references: 5
Language: hrvatski
Summary: In this report the authors describe an unusual unsystematic
type of multiple chromosome aneuploidies in a male proband with profound
microcephaly, mental retardation and growth retardation. The cytogenetic
investigation of the proband was initiated at 31 weeks of gestation when
fetal growth retardation and microcephaly were detected by ultrasonography.
The analysis of standard peripheral blood lymphocyte cultures revealed
various unsystematic aneuploidies distributed over the chromosome
complement. Trisomies, tetrasomies and monosomies of almost all autosomes
were observed in the majority of patient's cells.
The gonosomal constitution differed from XY as well. A high proportion of
the metaphases treated with colchicin showed PCD of single chromosomes or
had the appearance of C-anaphase.
The patient's parents showed normal karyotypes.
The association of disturbed mitosis with a high frequency of aneuploid
cells is possibly a result of a new mutant affecting mitosis and causing
aneuploidies. The finding provide further evidence for the correlation
between the alteration of centromere separation and chromatid separation at
cell division resulting in aneuploidies. Authors suggest that mental
retardation associated with multiple chromosome aneuploidies and evidence
of abnormal centromere function such as PCD and C-anaphases may not always
carry a low reccurence risk. The implication for genetic counselling are
discussed.
Keywords: PCD (premature centromere separation), C-anaphasis, genetic cunseling division
- Type of paper
: Paper in journal
Title: Fetal cystic hygroma and associated chromosomal aberration
- a combined ultrasonic and cytogenetic study
- Authors:
- KURJAK, ASIM
- ZERGOLLERN, LJILJANA
- MIRIĆ, DANKA
- MARTON, ULLA
Journal: Gynaecol Perinatol
Number: 3
ISSN: 1330-0091
Volume: 2
Year: 1993
Pages: from 105 to 107
Number of references: 19
Language: engleski
Summary: Sixteen cases of fetal cystic hygroma were diagnosed in the
second trimester of gestation and one in the first trimester, using B-mode
sonography. All fetuses were successfully karyotyped: six were normal, six
monosomy-X, two trisomy 18, two trisomy 21 and one trisomy 13. With regard
to its strong association with chromosomal aberrations, cystic hygroma is
an absolute indication for prenatal karyotyping.
Keywords: Fetal cystic hygroma colli (CHC), monosomy-X (45,X), trisomies 18, 21, 13
- Type of paper
: Paper in journal
Title: The delta F508 mutation and genotype-phenotype correlation
in Croatian cystic fibrosis families
- Authors:
- ZERGOLLERN, LJILJANA
- STAVLJENIĆ, ANA
- BARIŠIĆ, INGEBORG (168183)
- SERTIĆ, JADRANKA
Journal: Periodicum Biologorum
Number: 3
ISSN: 0031-5362
Volume: 95
Year: 1993
Pages: from 359 to 361
Number of references: 21
Language: engleski
Summary: A sample of 102 chromosome of Croatian cystic fibrosis
patients was analyzed for the presence of the delta F508 mutation within
the gene coding for cystic fibrosis transmembrane conductance regulator
(CFTR) protein. Genotyping performed by PCR technology showed an overall
frequency of 53% of this major CF gene mutation, 69% of chromosomes of
patients with pancreatic insufficiency (PI) and 42% of patients with
pancreatic sufficiency (CF-PS) being affected. Most the patients homozygous
and other genotype groups, respectively. There is no absolute associatio
between the severity of the disease and the delta F508 genotype, but
homozygous individuals tend to have a more serious form of the disease.
Identification of other mutations that may eventually prevail in this
population is essential for the improvement of the diagnosis, more accurate
prognosis and prevention in families at risk.
Keywords: cystic fibrosis, mutations, polymerase chain reaciton
- Type of paper
: Paper in journal
Title: Incidence of Down's syndrome in two regions of Croatia -
clustering in time and space?
- Authors:
- LIGUTIĆ, IVO
- BARIŠIĆ, INGEBORG (168183)
- DOLK, HELEN
- MODRUŠAN-MO2ETIĆ, ZLATA
- BEER, ZLATA
- CAPAR, MARIJAN
- 2U2EK, ADELE
- STANOJEVIĆ, MILAN
- ŠVEL, IVO
Journal: Paediatr. Croat.
Number: 4
ISSN: 1330-1403
Volume: 37
Year: 1993
Pages: from 129 to 133
Number of references: 24
Language: engleski
Summary: The Institute of Mother and Child Health as a Regional
Center for the registration of congenital anomalies in Europe (EUROCAT) has
been continously registering congenital anomalies in Varazdin and Rijeka
from 1983, and from 1986 in Istria and the communities of the Varazdin
region. In 1986 we registered and during 1987-1988 we confirmed a
significant increase in the incidence of Down's syndrome. Moreover, during
the whole monitored period (1983-1988) we registered a high incidence of
this chromosomal aberration in mothers less than 30. In this study, by
verification of all relevant data, we wanted to establish whether the
registered higher incidence of Down's syndrome in 1986-1987 period, as well
as the high incidence in younger mothers were real or methodological
artifacts. Considering the time period in which we observed the higher
incidence of Down's syndrome we wanted toestablish if the extra irradiation
of our population during the Chernobyl accident had anz influence on this
event. By checking all data that could influence the incidence of
Down'syndrome, we established that during the 1986-88 period the incidence
of registered cases was signigicanty higher compared to the 1983-85 period
(20.9 vs.11.9 per 10,000 respectively). The principal reason forthis
increase was the inclusion of new regions with a high incidence in our
registry. The additional irradiation of our population caused by the
Chernobyl accident could not be responsible for the increase of Down's
syndrome during 1986-88 period in the investigated areas. Compared to other
EUROCAT registries, our registry has the highest incidence of Down's
syndrome babies born to them (15.3 per 10,000 live births vs. EUROCAT
centers ranging from 2,7 to 8.7, the average 7,26 per 10,000). The
incidence is also significantly higher when compared to reliable
international age specific rates of Down'syndrome. The unusually high
incidence of Down's syndrome in younger mothers in regions covered by our
registry need further investigation. Any persistance of a higher rate of
this and perhaps other chromosomal aberrations in our Registry would
justify the search for a possible etiologic explanations.
Keywords: Down's syndrome, clustering, Chernobyl
- Type of paper
: Paper in journal
Title: A high rate of Down's syndrome in two regions of Croatia
- Authors:
- LIGUTIĆ, IVO
- BARIŠIĆ, INGEBORG (168183)
- ŠVEL, IVO
- BARIŠIĆ, INGEBORG (168183)
Journal: Paediatric and Perinatal Epidemiology
Number: 8
Volume: 8
Year: 1994
Pages: from 120 to 122
Number of references: 2
Language: engleski
Summary:
- Type of paper
: Paper in journal
Title:
- Type of paper
: Paper in journal
Title: Additional polymorphism for KM-19 locus linked to cystic
fibrosis including detection by DNA amplification in Croatian patients
- Authors:
- STAVLJENIĆ, ANA
- SERTIĆ, JADRANKA
- ZERGOLLERN, LJILJANA
- BARIŠIĆ, INGEBORG (168183)
- MATIŠIĆ, DANICA
- KRAJINA, ANDINA
Journal: Clinica e laboratorio
Number: 2
Volume: 18
Year: 1994
Pages: from 39 to 41
Number of references: 10
Language: engleski
Summary: Cystic fibrosis (CF) is the most common and severe
autosomal recessive disease in Caucasians, affecting approximately 1/2000
newborns. CF is caused by mutations in the gene encoding for cystic
fibrosis transmembrane conductance regulator (CFTR), a polypeptide of 1480
amino acids related to the familz of membrane-bound transport molecules.
The CFTR gene has been localized to a 250 kb segment of chromosome 7q 31-32
and contains 27 exons. The major mutation causing CF ia a deletion of three
nucleotides in exon 10 (DF508). This mutation accounts for 68% of all CF
chromosomes worldwide. The prevalence of DF508 mutation in Croatian CF
patients was 53%, as detected by size discrimination on polyacrylamide gel.
Presently and until the CFTR gene is identified, the diagnosis is made
using the restriction fragment length polymorphism as detected by Southern
blot technique, shown to be closely related to the gene. Recently, the
polymerase chain reaction (PCR) technique has allowed rapid intragenic and
extragenic analysis without the use of radioactivity. Our results on
PCR-amplified KM-19 locus digested by restriction enzyme PstI are
reported.
Keywords: cystic fibrosis, mutations, polymerase chain reaction
- Type of paper
: Paper in proceedings
Title: Medical genetics - past, present and future
- Authors:
- ZERGOLLERN, LJILJANA
- Editors
- Čvorišćec, Dubravka
Proceedings title: Metode molekulske biotehnologije u kliničkom laboratoriju
Language: hrvatski
Place: Zagreb
Year: 1993
Pages: from 9 to 13
Meeting: Prvi hrvatski kongres biokemičara
- Type of paper
: Summary in proceedings
Title: Risk estimates for offspring of structural chromosomal
aberrations carriers in comparison with outcome of pregnancies
- Authors:
- BARIŠIĆ, INGEBORG (168183)
- LIGUTIĆ, IVO
- ZERGOLLERN, LJILJANA
Proceedings title: Medizinische Genetik, EM
Language: engleski
Place: Muenchen, Deutschland
Year: 1994
ISBN/ISSN: 0936-5931
Pages: from 110 to 110
Meeting: The 6th Annual Meeting of the German Society of Human Gentics
Held: from 03/23/94 to 03/26/94
Summary: The risk of having an unbalanced offspring for structural
chromosome aberration carriers vary considerably, depending on the type of
aberration, sex and age of carrier. We present the analysis of 80 families
(40 reciprocal translocations - rcp, 29 Robertsonian translocations - RT,
10 pericentric inversions - per inv, and 2 paracentric inversions- para
inv). For rcp and per inv empirical method of risk assessment of
Stengel-Rutkowski et al. (1989) was applied, while for RT segregation
analyses of pedigrees and prenatal diagnostics data were performed. Among
carriers of rcp no significant difference between sexes was observed, 17
carriers being males and 23 females. The overall risk at second trimester
prenatal diagnosis was 14%. The individual risks for an unbalanced
offspring at birth ranged from 0-20%. Carriers of 21 translocations had a
risk for single-segment imbalances and 19 carriers had a risk for double
segment imbalances. The average risk in the first group of carriers was 3.5
higher than the risk in the second group. Most (22/40 or 55%) of the rcp
were low risk (0-5%). Without risk and medium risk (5-10%) translocations
were equally represented and not so frequent (7/40 or 17,5%), while high
risk translocations (> 10%) were quite rare (4/40 or 10%). The pedigrees of
our families were in good agreement with risk assessment. In translocations
ascertained through spontaneous abortions the risk was mostly small or
non-existent (82% or 14/17), while in translocations discovered through
unbalanced offspring different risk groups with exception of no risk group
were found. Because of the fact that unbalanced offspring were observed in
different risk groups families, even if the empirical risk of an unbalanced
offspring in a given rcp was estimated to be very low, prenatal diagnoss in
future pregnancies was advised. Only in no risk translocations we could
predict with certainty that no unbalanced fetus will be carried out to
term. In 9 analyzed families with per inv no unbalanced progeny was
observed. In five families the estimated risk was low (< 1%), while four
families where without empirical risk. The overall risk in per inv was
about ten times lower than the risk for rcp. The ovrall risk for RT
carriers obtained by the analysis of prenatal segregation data was 15%, and
by segregation analysis of family trees 11,9%. Only RT that included
chromosome 21 were at risk. The risk was inversely proporitonate to the
lenghth of the other chromosome included, and absolute in homologue 21/21
translocation. The risks for para inv were particularly difficult to
estimate, but were considered to be very small. Our experience emphasize
the need for accurate individual risk counselling for carrrier of
structural chromosomal aberration regarding their future pregnancies.
Keywords: chromosomal aberrations, reciprocal translocation carriers, genetic counsellin
- Type of paper
: Summary in proceedings
Title: EUROCAT registration of congenital anomalies from 1983 to
1993 in Croatia
- Authors:
- Kapitanović, Helena
- BARIŠIĆ, INGEBORG (168183)
- LIGUTIĆ, IVO
Proceedings title: Medizinsiche Genetik, EM
Language: engleski
Place: Muenchen, Deutschland
Year: 1995
ISBN/ISSN: 0936-5931
Pages: from 178 to 178
Meeting: 27th Annual Meeting of the European society of Human Genetics (ESHG)
Held: from 05/23/95 to 05/27/95
Summary: Results of the eleven-years surveillance on congenital
anomalies in four regions of Croatia (Varaždin, Koprivnica, Rijeka and
Pula) are presented. This study was carried out as a part of EUROCAT
(European Registration of Congenital Anomalies) program. This project is
based on a network of regional registries that cover geographically defined
populations. All participating centers are coordinated by a central
registry in Brussels. The statistical monitoring analysis included for each
condition: a geographical display of prevalence rates, a Chi-square
analysis, a Cusum analysis, a Scan analysis.
During the 1983-1993 period 1228 cases with congenital anomalies were
reported on 65.100 resident newborns. It yields the average prevalence rate
of 18.86 per 1.000 births.
The most frequent selected malformations are: ventricular septal defect 115
(17.6/10.000 births), hzpospadias 83 (12.7), Down's syndrome 76 (11.7),
cleft lip +/- palate 67 (10.2), atrial septal defect 51 (7.8), polydactyly
50 (7.7), microcephaly 33 (5.1), cleft palate 32 (4.9), hzdrocephalz 31
(4.8), syndactyly 26 (3.9), spina bifida 20 (2.8), vesicourethral reflux
(2.6), transposition of great arteries 18 (2.8), congenital hypertrophic
pyloric stenosis 15 (2.3), cystic kidney 15 (2.3), gastroschisis 13 (1.9),
esophageal atresia with tracheo-esophageal fistula 12 (1.8), omphalocele
10(1.5), hypoplastic left heart 10(1.5).
The statistical monitoring analysis performed on data in the monitored
period shows a possible increase in prevalence rates of cleft lip +/-
palate as well as an abnormal fluctuation in prevalence rates of Down's
syndrome. Comparison of rates of Down's syndrome with other EUROCAT
registries established an unusually high rate during the 1983-993 period,
that sould be followed in future.
Keywords: congenital anomalies, Down sydnrome,
- Type of paper
: Summary in proceedings
Title: Mucopolysaccharidosis IV C in brohter and siter (with
dental changes typical for mucopolysaccharidosis IV A)
- Authors:
- BARIŠIĆ, INGEBORG (168183)
- LIGUTIĆ, IVO
- Škrinjarić, Ilija
Proceedings title: Medizinische Genetik, EM
Language: engleski
Place: Muenchen, Deutschland
Year: 1994
ISBN/ISSN: 0936-5931
Pages: from 105 to 105
Held: from 03/23/94 to 03/26/94
Summary: Muccopolysaccharidosis (MPS) type IV (Morquio's disease) is
clinically, genetically and biochemically very heterogenous. The current
classification on type A and B with established enzymatic deficiencies and
type C with unknown enzymatic defect only partially discloses heterogeneity
of the Morquio disease. Here we present a twelve-year old girl and her
seven-year old brother with short trunk dwarfism, normal ingelligence,
coarsening of facial features, mixed type of conductive and sensorineural
deafness, short neck, pectus carinatum, lumbar kyphosis, slight genua
valga, flat feet, laxity of small joints of hands and fingers. Skeletal
survey showed changes consistent with MPS IV. Keratosulphaturia was not
prooved, but hondrotin sulphate 4 and 6 in urine were elevated. The
activity of enzymes N-acetylgalactosamine-6-sulphate sulphatase and
beta-galactosidase in fibroblasts was normal. The activities of other
examined lysosomal enzymes were within normal range. After a careful
analysis other known syndromes with short trunk skeletal dysplasia were
dismissds as possible cause of the disease. In both sibs extensive dental
changes typical for MPS IV A were found. In the girl a diagnosis of
cistinuria type I was also established. Our patients confirm the old dictum
that the heterogeneiy of inherited metabolic diseases is more a rule than
an exception. Furthermore, our observation is not in agreement with the
assertion that the dental changes in MPS IV are useful clinical way of
distinguishing MPS IV B and C from MPS A.
Keywords: mucopolysaccharidosis, Morquio disease,
- Type of paper
: Summary in proceedings
Title: Unbalanced chromosome segregation of constitutional
t(11;22) due to crossover followed by 3:1 disjunction at first meiosis
- Authors:
- Petković, Iskra
- de Capoa, Adriana
- BARIŠIĆ, INGEBORG (168183)
Proceedings title: Medizinische Genetik, EM
Language: engleski
Place: Muenchen, Deutschland
Year: 1995
ISBN/ISSN: 0936-5931
Pages: from 129 to 129
Meeting: 27th Annual Meeting of the European society of Human Genetics (ESHG)
Held: from 03/23/95 to 03/27/95
Summary: A reciprocal translocation t(11;22)9q23;q11) is of
particular interest because the unbalanced offspring of the translocation
carriers usually presents a normal chromosome complement puls an extra copy
of derived 22. This unbalanced karyotype is the result of 3:1 chromosome
segregation during meiosis. Lockwood et al. (1989) and Simi et al. (1992)
presented an unusual segregation of translocation t(11;22). The proband's
karyotype presented 47 chromosomes with reciprocal translocation t(11;22)
and an additional derived chromosome 22. Two mechanisms leading to such
unusual karyotype were proposed: nondisjunction in parental meiosis II and
postzygotic non disjuncition. In this report we present a third child who
acquired both chromosomes involved in reciprocal translocations and an
additional copy of der(22). The aim of our investigation was to determine
the mechanism leading to this unusual chromosome complement. Cytogenetic
analysis was performed on slides obtained by peripheral blood cultures of
the proband and her parents. Slides were stained after GTG, and RBG banding
methods. In order to demonstrate any heteromorphisms associated with two
der(22) we used different selective staining methods. The proband's father
carried an apparently balanced translocation with a 46,XY,t(11;22)(q23:q11)
chromosome complement. The girl's karyotype was
47,XX-11,-22,+der(11),+der(22),+der(22),t(11;22)(q23;q11)pat. There are
different mechanisms leading to such unusual karyotype. The presence of
three derived chromosomes may be the consequence of alternate, adjacent 1
and 3:1 segregation patterns. In this study we used chromosome polymorphism
analysis to distinguish different segregation patterns and determine the
mechanism leading to the observed chromosome constitution in our patient.
In this child we suggested 3:1 segregation after the crossing over
involving the derived and normal 22 with or without crossing over involving
derived and normal chromosome 11.
Keywords: reciprocal translocation, unbalanced karyotype
- Type of paper
: Summary in proceedings
Title: Megalocornea- mental retardation syndrome: a new case
- Authors:
- BARIŠIĆ, INGEBORG (168183)
- LIGUTIĆ, IVO
- ZERGOLLERN, LJILJANA
Proceedings title: Medizinische Genetik, EM
Language: engleski
Place: Muenchen, Deutschland
Year: 1995
ISBN/ISSN: 0936-5931
Pages: from 220 to 221
Meeting: 27th Annual Meeting of the European society of Human Genetics (ESHG)
Held: from 05/23/95 to 05/27/95
Summary: Megalocorena- mental retardation syndrome (MMR) is a rare
disorder presenting with megalocornea, mental and motor retardation,
hypotonia, short stature and chraracteristic dysmorphic features. There
have been 20 cases reported so far, revealing a spectrum of different
clinical features. Although the autosomal recessive inheritance is
suggestive, the gene location as well as the pathogenesis of the disease
are still unknown.
We present an additional case, a 2-year-old girl born to healthy unrealated
parents who already have a healthy son. The pregnancy was uneventful and
the delivery that took place at home was apparently at term and without
complications. Birth weight and length were not recorded. During the
newborn period she had convulsions and was treated with phenobarbital. When
first seen at the age of 2 years, she had short stature, hypotonic cerebral
palsy leading to delayed motor development. Her psychosocial achievement
was equivalent to 8-month old child. Ophthalmologic examination revealed
megalocorenae (corneal diameters 13 mm), normal intraocular pressure,
anterior segments and fundi. Minor anomalies of the face included mild
frontal bossing, antimongoloid eye slants, small epicanthal folds, broad
and slightly depressed nasal bridge, large carp mouth, micrognatia.
Scoliosis was also present.
Laboratory examinations as well as prometaphase chromosomes, brain CT, EMG
and nerve conduction velocity were normal. EEG showed a slow baseline
activity and brainstem auditory evoked potentials delayed conduciton. On
brain MRI symmetrical delay of myelinisation in perioccipital regions was
recorded. The variability of associated anomalies found in the review of
literature cases makes difficult to explain all clinical presentations on
the basis of clinical variability and expressivity alone.
This allows the hypothesis of a causal heterogeneity and perhaps the
existence of several distinct entities within this condition. Additional
reports are needed in delineate the phenotypes comprised by MMR syndrome
with more accuracy, helping thus the diagnosing and family counselling in
this rare disorder.
Keywords: megalocornea- mental retardation, Neuhauser syndrome
- Type of paper
: Summary in proceedings
Title: Ethics in human genetics. Problems and dilemmas
- Authors:
- ZERGOLLERN, LJILJANA
Proceedings title: Budapest Symposium on Prenatal Diagnosis
Language: engleski
Place: Budapest, Hungary
Year: 1991
Meeting: Budapest Symposium on Prenatal Diagnosis
Held: from 05/26/91
- Type of paper
: Summary in proceedings
Title: Risk estimates in families with parental reciprocal
translocations in comparison with outcome of pregnancies
- Authors:
- BARIŠIĆ, INGEBORG (168183)
- LIGUTIĆ, IVO
- ZERGOLLERN, LJILJANA
- ŠVEL, IVO
Proceedings title: European Journal of Epidemiology, CC, IM, EM
Language: engleski
Place: Stuttgart, Deutschland
Year: 1993
ISBN/ISSN: 0392-2990
Pages: from 109 to 110
Meeting: Third European Symposium on the Prevention of Congenital Anomalies
Held: from 10/16/92 to 10/19/92
- Type of paper
: Summary in proceedings
Title: Molecular diagnosis of cystic fibrosis
- Authors:
- SERTIĆ, JADRANKA
- STAVLJENIĆ, ANA
- ZERGOLLERN, LJILJANA
- BARIŠIĆ, INGEBORG (168183)
Proceedings title: 1. Hrvatski kongres humane genetike
Language: engleski
Place: Zagreb
Year: 1994
Pages: from 52 to 52
Meeting: 1. Hrvatski konges humane genetike
Held: from 09/22/94 to 09/25/94
Summary: Cystic fibrosis is a serious genetic defect transmitted as
an autosomal recessive disease. The main intragenic mutation is DF508
deletion, and the most common extragenic mutations involve KM-19 and XV-2c.
Recently, three polymorphic dinucleotides of intron 8 (IV S 8/GT) and 17b
(IV S 17bTA and IV S 17 b/CA) in combination with DF508 are found to be
fully informative in 99% of CF patients. In Croatia, 58 families with CF
patients were analyzed. Results of genotyping revealed DF508 to be present
in 51,7% of CF patients. The analysis of extragenic KM-19 locus
polymorphism pointed to association between cystic fibrosis and a part og
genome in 30% of patients. A new mutation of exon 12 (Y 5696) of the CFTR
gene was also observed in one patient with DF508, which appears to be an
advancement in prenatal diagnosis.
Keywords: cystic fibrosis, mutations, PCR, RFLP
- Type of paper
: Summary in proceedings
Title: Toxic radicals and polymorphism of SOD gene
- Authors:
- Doko-Jelinić, Jasenka
- STAVLJENIĆ, ANA
- SERTIĆ, JADRANKA
- Vuletić, Silvije
Proceedings title: 1. Hrvatski kongres humane genetike
Language: engleski
Place: Zagreb
Year: 1994
Pages: from 41 to 41
Meeting: 1. Hrvatski konges humane genetike
Held: from 09/22/94 to 09/25/94
Summary: All living organisms are continously exposed to agents that
can damage their DNA, RNA and proteins. Especially damage of DNA can have
serious consenquence for organism. free radicals as endogenous sources of
DNA damage are acting during several metabolic processes in the cell.
Magnese superoxide dismutase(MnSOD/SOD2)(E.C:1.15.1.1.) is one from the
group of enzymes involved in the conversion of oxygen free radicals to
hydrogen peroxide. MnSOD has been linked both to the removal of toxic
oxygen radicals formed during hyperoxia and ishemic reperfusion and to
cellular differentiation. The aim of this study was to investigate the SOD
gene mutation using RFLP ans SOD enzyme activity.
Preliminary results reveal the presence of gene polymorphism in conneciton
to certain enzyme activity.
Keywords: SOD dismutase, mutation
- Type of paper
: Mentorship
Title: The analysis of congenital anomalies i Međimurije
Faculty: Medicinski fakultet Zagreb
Mentor: ZERGOLLERN-ČUPAK LJILJANA
Date of defense: 02/28/92
Number of pages: 120
Author: Janić dr Ines
Degree level: M.A.
- Type of paper
: Mentorship
Title: The comparison of frequencies of Down's syndrome in
pregnant women older than 35 years before and after the introduction of
early amniocentesis
Faculty: Medicinski fakultet Zagreb
Mentor: ZERGOLLERN-ČUPAK LJILJANA
Date of defense: 07/22/92
Number of pages: 154
Author: Ogrizek-Pelkič dr Ksenija
Degree level: M.A.
- Type of paper
: TV broadcast
Title: Medical genetics as a part of preventive medicine
- Authors:
- BARIŠIĆ, INGEBORG (168183)
- Vuletić, Silvije
- ZERGOLLERN, LJILJANA
- Pavelić, Krešimir
TV station: OTV
Name of emission (broadcast): Ekspertiza
Year: 1994
Language: hrvatski
- Type of paper
: TV broadcast
Title: The importance of medical genetic in pathology of humans
- Authors:
- ZERGOLLERN, LJILJANA
- Pavelić, Krešimir
- BARIŠIĆ, INGEBORG (168183)
TV station: III Program zagrebačkog radija
Year: 1994
Language: hrvatski
- Type of paper
: TV broadcast
Title: Twins
- Authors:
- ZERGOLLERN, LJILJANA
TV station: II program HTV
Name of emission (broadcast): Blizanci
Year: 1994
Language: hrvatski
- Type of paper
: Invited lecture
Title: Contemporary approaches to medical genetics
Institution: Medicinski fakultet Džakarta
Year: 1991
- Type of paper
: Invited lecture
Title: Norrie syndrome in the light of molecular genetics
Institution: Medicinski fakultet Prag
Year: 1993
- Type of paper
: Invited lecture
Title: Prenatal diagnosis in Croatia
Institution: Medicinski fakultet Prag
Year: 1992
- Type of paper
: Invited lecture
Title: The value of theoretical genetics in the practical medical
work
Institution: Institut Ruđer Bošković
Year: 1994
- Type of paper
: Invited lecture
Title: The development of Human Genetic in Croatia
Institution: Medicinski fakultet Sveučilišta u Zagrebu
Year: 1994
- Type of paper
: Invited lecture
Title: Etical and juridical problems in prinatology
Institution: Medicinski fakultet Sveučilišta u Zagrebu
Year: 1995
