AN INFANT WITH THE 4p- PHENOTYPE CARRYING A FAMILIAL t(4p-; 19p or q+) TRANSLOCATION

Abstract

To our knowledge, no translocations between the short arm of a number 4 chromosome and a number 19 have been reported. The case presented here is that of an infant with clinical features strongly suggestive of the 4p- syndrome. At the time of the patient's birth the mother was 34 and the father 36 years of age. Physical examination revealed a male with a large bilateral cleft palate, abnormal anterior fontanelle, abnormally-shaped ears, hypertelorism, a small penis with third degree hypospadias, a single testicle on the right side, stubby fingers and toes, and bilateral simian creases. There was constant seizure activity. Chromosome studies revealed what appeared to be a translocation of 4p material to an F group chromosome; subsequent autoradiographic and G-banding studies demonstrated at(4p-; 19p or q+) translocation. The patient died at seven weeks of age following a seizure episode. The patient's phenotypically normal mother, maternal grandmother and an uncle were also found to have the same translocation. The patient's aneusomy could be explained using a model involving three chromosome breaks during Öogenesis resulting in the loss of a critical part of the translocated 4p material.