title: Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry.
abstract: 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.
authors.affiliation: Edmonton Genetics Clinic, Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. nleonard@cha.ab.ca
authors.forename: N J
authors.initials: NJ
authors.lastname: Leonard
authors.forename: D J
authors.initials: DJ
authors.lastname: Tomkins
mesh_terms: 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*