Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation

Abstract

Translocation between chromosomes 4q and 5p has been observed in 12 members of a family. Multiple deaths occurred in early childhood in the family but spontaneous stillbirth did not show an increased frequency. In two children, identical cytogenetic findings were found consisting of translocation between 4q and 5p, resulting in trisomy 4(q31 leads to qter) and, based on clinical symptomatology, of a probably monosomy 5(p15 leads to pter). The clinical picture of both children included the main features of the cri du chat syndrome: a low birthweight, catlike cry, severe psychomotor retardation, hypotonicity, antimongoloid slant of the eyelids, microcephaly together with other symptoms determined by trisomy 4q.