47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?
A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were similar to those of other patients with an additional number 18 chromosome in which all or most of the long arm was missing, thus raising the possibility of a distinct syndrome.
D002675:Child, Preschool; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy