Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry.
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.
Leonard
N J
NJ
Edmonton Genetics Clinic, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. nleonard@cha.ab.ca
Tomkins
D J
DJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001006:Anus, Imperforate / Q000473:pathology*; D004386:Duodenum / Q000002:abnormalities*; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D007621:Karyotyping; D009030:Mosaicism; D011003:Ploidies; D001743:Urinary Bladder / Q000002:abnormalities*