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.