FAMILIAL 4/22 TRANSLOCATION WITH PARTIAL TRISOMY FOR THE SHORT ARM OF CHROMOSOME 4 IN TWO SIBS

. Sartori, E., Tenconi, R., Baccichetti, C. & Pujatti, G. (Paediatric Clinic, University of Padova, Padova, Italy). Familial 4/22 translocation with partial trisomy for the short arm of chromosome 4 in two sibs. Acta Paediatr Scand 63: 631, 1974.—The further study of subjects, whose abnormal karyotype has been identified by means of the fine analysis of the chromatids with chromosome banding techniques, is necessary for a valid comparison of the clinical patterns. In this paper chromosome banding was carried out by the reverse-staining Giemsa method in the 5 living members of a family with two sibs affected by the same abnormal phenotype. Severe mental retardation, stunted growth, peculiar facies, low-set ears, turricephaly and bilateral hip dislocation or hypoplasia were the main features. The mother and a normal sister had normal karyotype. The father presented a balanced translocation between the short arm of chromosome number 4 and the long arm of chromosome 22. The two malformed children were trisomic for a segment of the short arm of chromosome number 4 (4p14.4pter). The clinical picture observed in these malformed children is quite different from that noted in the only case reported of a child affected by a trisomy for the short arm of chromosome 4 identified by autoradiography alone. This may depend on the different amount of genetic material or on the different chromosome involved in the translocation.