Segregation of two independent chromosomal translocations in one family.
A family with two independent reciprocal translocations t(3;19) and t(16;22) is described. The proband, a 4-week-old male, was phenotypically conspicuous with multiple congenital anomalies. Cytogenetic examination revealed a balanced reciprocal translocation (3;19) and a supernumerary small marker chromosome. His mother carried two balanced reciprocal translocations, the one found in the proband and a reciprocal translocation (16;22). The maternal grandmother and a maternal uncle were identified as carriers of a single translocation (16;22). The findings in the family members permitted the identification of the proband's marker chromosome as a derivative chromosome 22 resulting in partial trisomy 16 and 22.
D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D002903:Chromosomes, Human, 19-20; D002904:Chromosomes, Human, 21-22 and Y; D006579:Heterozygote; D006801:Humans; D007223:Infant; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy