Partial trisomy 2q and familial translocation t(2;18)(q31;p11).
This report describes a malformed infant with distal 2q trisomy/distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001789:Blood Group Antigens / Q000235:genetics; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy
D001789:Blood Group Antigens