Abstract.A partial trisomy 13q was observed in siblings with hexadactylia, hypertelorism, haemangiomata and severe psychomotor retardation. It originated from a maternal inversion translocation 46,XX,inv(8)(q23q241),t(8;13)(q241;q32). The family showed a pedigree pattern typical for the segregation of a chromosomal translocation. In spite of this the diagnosis was delayed several years, because the bands involved from the two chromosomes were of great similarity. This stresses the importance of reinvestigating families with a clinical suspicion of a chromosomal syndrome, preferentially with prometaphase chromosomes. The identification of a chromosomal rearrangement is essential for genetic counselling and prenatal diagnosis.
Key words:Chromosome inversion translocation -Partial trisomy 13 -Prometaphase chromosomes -Genetic counseling -Congenital malformations -Mental retardation second malformed child, was born and the chromosomes of the infant and the parents were examined with Q and R banding. When a partial trisomy 13 was found in the proband, the chromosomes of her elder brother (IV, l) were evaluated again on the stored microphotographs. He was found to have the same chromosomal aberration as the proband. The mother carried a complicated balanced (8;13) translocation, so did the maternal grandfather. In generation II, seven malformed children died in early infancy. In generation III, two malformed infants died and there was one abortion. Medical records were available for three individuals in generation II (II,3, II,7 and II,9) and for two individuals in generation III (III,1, III,4). The information on generations II and III was collected from hospital records, family records, midwife records and parish files. The data from the two affected children in generation IV, were recorded in detail.