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C Elek

Publications and source records attributed to C Elek.

6 recordsLinked to original sources
PubMed1991

[Split hand/foot abnormalities: classification, pathogenesis, epidemiology].

Authors report on the genetic epidemiologic investigation of one of the sentinel anomalies made on purpose to define the birth prevalence of the different types of it, to calculate the mutation rate of autosomal dominant forms as well as to recognize the clinical features of Hungarian cases. 58% of all cases registered in the Hungarian Congenital Abnormality Registry in 1975-1984 proved to be atypical. The birth prevalence of autosomal dominant forms was 1.33/100.000 total birth. 71% of dominant forms was sporadic since 29% was familial. Thus the mutation rate was estimated 4.7 x 10(-6) +/- 1.22 x 10(-6).

Female↗
PubMed1991

[Holt-Oram syndrome].

Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).

Abnormalities, Multiple↗
PubMed1991

The evaluation of the germinal mutagenic impact of Chernobyl radiological contamination in Hungary.

The genetic consequences of radioactive fall-out deposition from the Chernobyl (USSR) accident in Hungary was evaluated as a part of the ongoing programme on the population-based Hungarian Surveillance of Germinal Mutations. The surveillance is based on three groups of indicator conditions: 15 sentinel anomalies (indicators of germinal dominant gene mutations), Down's syndrome (an indicator of germinal numerical and structural chromosomal mutations) and unidentified multiple congenital abnormalities (indicators of germinal dominant gene and chromosomal mutations). Cases with these indicator conditions were selected from the material of the Hungarian Congenital Abnormality Registry. After the diagnostic accuracies were checked, familial and sporadic cases were separated. Only the latter group was evaluated for evidence of new mutations. The analysis did not reveal any measurable germinal mutagenic effects of the Chernobyl accident. Furthermore, there were no significant differences in the rates of these three groups of indicator conditions between regions with higher and lower increased background radiation.

Abnormalities, Multiple↗