Familial partial distal 18q (18q22-18q23) trisomy.
Three siblings were found to have partial trisomy of the distal portion of the long arm of chromosome 18 (18q22-18q23). This partial 18qter trisomy is the unbalanced product of a maternal 6p/18q trisomy with insertion of the distal portion of 18q(18q22-18q23) into band 6p11. The available data on the different partial trisomies of chromosome 18 are briefly reviewed.
D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014314:Trisomy