Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8).
We report a girl with partial trisomy-8 mosaicism whose clinical findings were those of the Warkany et al. (1962) [17] or trisomy 8 syndrome. A dicentric autosome, dic(8) (qter leads to p21::p21 leads to qter), was found in all abnormal cells and evidence is presented that one centromere was inactive, allowing the dicentric to behave as a monocentric chromosome. The parents had normal karyotypes.
D002503:Centromere; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D009030:Mosaicism; D014314:Trisomy