Leonard N J, Tomkins D J
Edmonton Genetics Clinic, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Am J Med Genet. 2002 Sep 15;112(1):86-90. doi: 10.1002/ajmg.10662.
Many types of chromosome mosaicism have been identified in cases of hypomelanosis of Ito, often in association with chromosome instability; however, there have been very few cases with diploid-tetraploid mosaicism described in the literature. We present a patient with a tetraploid mosaicism: a 17-year-old girl who has hypomelanosis of Ito in association with diploid/tetraploid/t(1;6) mosaicism. She had multiple congenital anomalies of omphalocele, exstrophy of bladder, duodenal web, and imperforate anus. These features have not been described previously in diploid-tetraploid mosaicism.
