Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p.

We describe the clinical case of a nine-year-old boy with psychomotor retardation and a small supernumerary marker chromosome (sSMC) present in mosaic form. Fluorescence in situ hybridization (FISH) using centromere cross-hybridizing probes D1/5/19Z (pZ5.1), the whole chromosome paint probe 19, pool YACs19p (839B1, 872G3, 728C8), and pool YACs19q (767C4, 761C1, 786G6) demonstrated that the sSMC was derived from chromosome 19p. Based on GTG-banding and FISH analyses, the patient's karyotype was interpreted as: 47,XY,+mar.ish der(19) (:p13.3-->p11:)(839B1+, 872G3+,728C8+, D1/5/19Z+) de novo[52]/46,XY[48]. To our knowledge, only two other similar cases have been reported. This case helps to better delineate karyotype-phenotype correlations between sSMC 19p and associated clinical phenomena.

[Eleven years of registration of congenital anomalies in Croatia associated with the EUROCAT international project]. / Jedanaestogodisnje registriranje kongenitalnih anomalija u Hrvatskoj u sklopu medunarodnog projekta EUROCAT.

Results of the eleven-year registration of congenital anomalies in Croatia are presented. Zagreb Registry as a part of international EUROCAT (European Registration of Congenital Anomalies) project covers four regional centers (Varazdin Rijeka, Pula and Koprivnica). The ascertainment, calculation of prevalence rates and statistical methods are based on EUROCAT method of investigation. Mean prevalence rate of 18.86/1000 births (1228 children with congenital anomalies per 65,100 births) was registered in the 1983-1993 period. The most frequently registered anomalies were congenital heart diseases, a heterogenous group of limb defects, oral clefts, central nervous system anomalies and chromosomal aberrations. The most frequent structural anomalies expressed as rates per 1000 births are ventricular septal defect (1.8), cleft lip +/- palate (1.1), atrial septal defect (0.8) polydactyly (0.8) and limb reduction defects (0.5). Statistical analysis shows a fluctuation of Down's syndrome prevalence rates during the monitored period. Statistically significant differences (p < 0.01) in prevalence rates among four regions of Croatia were established. The prevalence rates of marker anomalies (Down's syndrome, polydactyly, oral clefts) are tenfold higher compared to routine statistical data of Republic of Croatia. Acquired experience, collaboration and results obtained in this project represent a good basis for more rational planning of medical care and further investigation of this significant medical and public health problem.

[Incidence of congenital anomalies in 2 communities in Croatia before and after the Chernobyl nuclear accident]. / Incidencija kongenitalnih anomalija u dvije opcine SR Hrvatske prije i nakon Cernobilske nuklearne nescrece.

The Institute for Medical Protection of Mothers and Children, being regional centre of European registry of congenital malformations (EUROCAT) since 1982, registers congenital anomalies in municipals of Varazdin and Rijeka. Following the nuclear disaster of Chernobyl, there were numerous articles published mainly in daily newspapers, pointing to the increased number of malformations, particularly to Down's syndrome, due to additional irradiation imposed on population. Through this study we wanted to find out whether in Varazdin and Rijeka, following the Chernobyl's accident, there has been any increase of congenital anomalies and whether our regional and EUROCAT registry have been adequate to find out genetic effects of small doses of ionizing radiation. The total incidence of registered congenital anomalies in Varazdin and Rijeka in previous four-year period, amounted to 12.97%, while following Chernobyl, it amounted to 12.7%. Not even nine marker malformations, including Down's syndrome, show any statistically significant increased number of malformations, a year after this nuclear accident. In 18 EUROCAT registries, on almost half a million of newly born children and foetuses, conceived before and after May 1, 1986, the frequency of Down's syndrome and congenital malformations of central nervous system and eyes has been compared. There have been no important differences between two compared groups, and the rate of Down's syndrome was 1.26% before, and 0.91% after the accident. Anticipated stochastic genetic effects of measured and estimated additional doses of radiation imposed to our and Western European populations are too small to be found out neither by regional nor by EUROCAT registries.