Unusual mosaicism of de novo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome.
A body with the 13 trisomy syndrome was found to have a unique form of mosaicism in which each of the two cell lines had different structural rearrangements. The predominant cell line was partially trisomic for the distal portion of the long arm of chromosome 13, while the minor cell line was trisomic for all of the long arm of 13. The patient is also unusual because he had congenital glaucoma and was still alive at 10 years.
D002648:Child; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy