Familial chromosome translocation t(3;18)(p21;p11).
A familial translocation t(3;18)(p21;p11) was observed in a newborn male. He had multiple malformations resulting from partial trisomy 3 and partial monosomy 18. The mother, maternal uncle, and maternal grandmother were found to be balanced translocation carriers. A daughter of the maternal uncle with similar malformations probably had the same unbalanced karyotype as the proband.
D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy