Phenotype-karyotype correlations in dup(18q): report of a case and review.
We report on a case of dup(18q) due to de novo translocation 46,XX,-21,t(18;21)(18qter----cen----21qter). The patient had many characteristic signs of full trisomy 18 except for internal organ malformations and early death. We review the phenotype-karyotype correlations between full trisomy 18 and dup(18q) and discuss the possibility of the existence of "critical zone(s)" at the proximal or/and distal region of 18q responsible for most signs of trisomy 18, such as congenital heart defect and early death.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D001853:Bone Marrow / Q000648:ultrastructure; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D010641:Phenotype; D013577:Syndrome; D014314:Trisomy