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G Bujdosó

Publications and source records attributed to G Bujdosó.

At least 19 recordsLinked to original sources
PubMed2002

Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases.

Small supernumerary marker chromosomes (SMC) are a heterogeneous group of chromosomes with an estimated frequency of approximately 0.14-0.72 per 1000 newborns and higher frequencies in particular populations such as the mentally retarded or infertile males. With a frequency of about 50%, derivatives of chromosome 15 represent the most common SMC. Here we present the results of a detailed analysis of 32 SMC(15) carriers who were ascertained in pre- or post-natal routine cytogenetic diagnostics. SMC(15) with euchromatic content led to mental and psychomotor retardation. In contrast, SMC(15) without euchromatin were found to have no influence on the carrier's phenotype but were detected with a high incidence among infertile males. The majority of SMC(15) are pseudodicentric homologous rearrangements. Based on our investigations a further characterization of der(15) was possible.

Chromosome Aberrations↗
PubMed2000

[Aberrations of chromosome 18 and their significance in genetic counseling].

In order to get information on the origin of chromosome 18 aberrations trisomy 18 cases were analysed as well as different chromosome 18 rearrangements. In total, their study population consisted of 100 trisomy 18 patients and their parents, 67 out of which have already been published. Additionally, seven families were analysed with structural aberrations of chromosome 18 including four patients with tetrasomy 18p. Determination of parent and cell stage of origin was performed by short tandem repeat typing (STR, microsatellites). These investigations revealed that the additional chromosomal material in the majority of the chromosomal 18 aberrations was maternal in origin (97/107). In most of the cases the nondisjunction occurred during maternal meiosis II. This was in agreement with findings of other groups. Thus, independently from the type of aberration, there was a predisposition of chromosome 18 for nondisjunction in maternal meiosis II. In this respect, chromosome 18 seemed to be unique among human autosomes. Furthermore, these results showed that molecular genetic analyses of chromosomal aberrations and their formation mechanisms were meaningful tools in genetic counselling situations: in 5 cases where cytogenetic investigations could not performed, the clinical diagnosis of Edwards syndrome could be confirmed by molecular findings. Thus, in these cases other genetic diseases with differing types of inheritance could be excluded from being the cause of the observed malformations. In a further structural rearrangement of chromosome 18, the origin could be determined as being mitotic, therefore a recurrence risk could be excluded for this couple.

Chromosome Aberrations↗
PubMed1990

Hyperphosphatasia-osteoactasia detected during anthropological examination.

Minor N.Ny., a 2-year-old girl, was examined in 1986 in a contested paternity case by an order of court. The defendant did not admit paternity and named another man, so anthropological and blood-group examinations were performed on mother, child and the two men. Giving expert opinion may prove to be difficult following anthropological examinations for developmental anomalies of either party. However, the observed disease or developmental anomaly may have clinical importance for parties examined 'by chance'. In our case morphological deviation was detected in mother.

Abnormalities, Multiple↗
PubMed1989

Analysis of chromosomes in paternity cases.

Authors on the base of the material investigated in the Department of Forensic Medicine of Semmelweis Medical University discuss importance of anthropological investigations as a valuable, additional to serology test. In cases when neither blood-group tests nor anthropology provided evidence sufficient to formulate a conclusive opinion chromosomal studies are recommended. The surveying of 300 cases with the C-band/showed the thickening of the heterochromatic part of chromosomes 1, 9, 16, Y/and the occurrence of total and partial inversion. Examinations with Q-band have revealed the incidence of chromosomal polymorphism.

Chromosome Banding↗
PubMed1984

The use of chromosomes in paternity actions.

The authors performed paternity investigations for many years by the order of the court and on this basis they give expert opinion in discussed paternity cases. In recent years opinion was given with the help of chromosome studies in cases where neither blood group nor anthropology investigations were decisive. From a couple of hundred persons the thickening of the heterochromatic part of the chromosomes studied by C-band methods is evaluated (1, 9, 16, Y) and (within this) the occurrence of total or partial inversion is observed. The frequency of polymorphism was studied among the chromosomes investigated by the C-band technique. From these data the authors aimed at deducing exact relationship: and forming the most exact possible expert's opinion in this problem which is of social significance as well.

Adolescent↗
PubMed1980

[Chromosome analysis in disputed paternity cases].

Results of the study of chromosomes carried out in cases of discussed paternity are reported. Using C-banding technique in 297 cases thickening of the heterochromatic part of chromosomes (1, 9, 16, Y) and incidence of total or partial inversion was studied. By Q-fluorescence-banding technique frequency of polymorphism was investigated.

Blood Group Antigens↗
PubMed1976

[Anthropological studies as a possible tool in disputed paternity cases].

Author on the base of the material investigated in the Department of Forensic Medicine of Semmelweis Medical University discusses importance of anthropological investigations as a valuable, additional to serology test. Data obtained by the investigation of 2000 families demonstrate the hereditary features and their value as an evidence in a filiation cases. Author emphasizes the importance of the chromosome-investigations as one of the most reliable methods in paternity cases.

Anthropology↗