Journal of Applied Genetics

, Volume 50, Issue 3, pp 293–296 | Cite as

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

Case Report


Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.


chromosomal mosaicism hypomelanosis of Ito maternal uniparental disomy paternal uniparental disomy trisomy 20 uniparental disomy 20 


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  1. Bianca S, Boemi G, Barrano B, Cataliotti A, Ingegnosi C, Indaco L, Ettore G, 2008. Mosaic trisomy 20: considerations for genetic counseling. Am J Med Genet Part A 146A: 1897–1898.CrossRefPubMedGoogle Scholar
  2. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, et al. 1999. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Hum Genet 7: 533–540.CrossRefPubMedGoogle Scholar
  3. Davies SJ, Hughes HE, 1993. Imprinting in Albright’s hereditary osteodystrophy. J Med Genet 30: 101–103.CrossRefPubMedGoogle Scholar
  4. Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, et al. 2001. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD (20) in a cohort of growth retarded patients. J Med Genet 38: 86–89.CrossRefPubMedGoogle Scholar
  5. Ensenauer RE, Shaughnessy WJ, Jalal SM, Dawson DB, Courteau LK, Ellison JW, 2005. Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies. Am J Med Genet Part A 134A: 202–206.CrossRefPubMedGoogle Scholar
  6. Hartmann A, Hofmann UB, Hoehn H, Broecker EB, Hamm H, 2004. Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis. Ped Dermatol 21: 636–641.CrossRefGoogle Scholar
  7. Hsu LYF, Kaffe S, Perlis TE, 1991. A revisit of trisomy 20 mosaicism in prenatal diagnosis. Prenat Diagn 11: 7–15.CrossRefPubMedGoogle Scholar
  8. James PA, Gibson K, McGaughran J, 2002. Prenatal diagnosis of mosaic trisomy 20 in New Zealand. Aust NSJ Obstet Gynaecol 42: 486–489.CrossRefGoogle Scholar
  9. Robinson WP, McGillivray B, Lewis MES, Arbour L, Barrett I, Kalousek DK, 2005. Prenatally detected trisomy 20 mosaicism. Prenat Diag 25: 239–244.CrossRefGoogle Scholar
  10. Salafsky IS, Scott N. MacGregor, Uwe Claussen, Ferdinand von Eggeling, 2001. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenatal Diagnosis 21: 860–863.CrossRefPubMedGoogle Scholar
  11. Spinner NB, Rand E, Bucan M, Jirik R, Gogolin-Ewens C, Riethman HC, et al. 1994. Paternal uniparental isodisomy for human chromosome 20 and absence of external ears. Am J Hum Genet 55: A118.Google Scholar
  12. Steinberg Warren N, Soukup S, King JL, St J Dignan P, 2001. Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): A case report with long-term outcome. Prenat Diagn 21: 1111–1113.CrossRefGoogle Scholar
  13. Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, et al. 2002. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: Clinical cytogenetic and molecular analysis. Eur J Hum Genet 10: 694–698.CrossRefPubMedGoogle Scholar
  14. Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB, 2004. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet Part A 124A: 274–279.CrossRefPubMedGoogle Scholar
  15. Wallerstein R, Twersky S, Layman P, Kernaghan L, Aviv H, Pedro HF, Pletcher B, 2005. Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism. Am J Med Genet Part A 137A: 94–97.CrossRefGoogle Scholar
  16. Willis MJ, Bird LM, Dell’Aquilla M, Jones MC, 2008. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet Part A 146A: 330–336.CrossRefGoogle Scholar
  17. Wilson LC, Oude Luttikhuis MEM, Clayton PT, Fraser WD, Trembath RC, 1994. Parental origin of Gs-alpha gene mutations in Albright’s hereditary osteodystrophy. J Med Genet 31: 835–839.CrossRefPubMedGoogle Scholar

Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2009

Authors and Affiliations

  1. 1.Section of Medical and Molecular Genetics, Department of PediatricsUniversity of ArizonaTucsonUSA
  2. 2.Department of Molecular and Cellular BiologyUniversity of ArizonaTucsonUSA

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