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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 1
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Short Communication

A Fetus with Hb Bart’s Disease Due to Maternal Uniparental Disomy for Chromosome 16

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Pages 66-69 | Received 13 Jul 2015, Accepted 07 Sep 2015, Published online: 16 Nov 2015

References

  • Lau YL, Chan LC, Chan YY, et al. Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong — implications for population screening. N Engl J Med. 1997;336(18):1298–1301
  • Leung KY, Lee CP, Tang HY, et al. Cost-effectiveness of prenatal screening for thalassaemia in Hong Kong. Prenat Diagn. 2004;24(11):899–907
  • Kou KO, Lee H, Lau B, et al. Two unusual cases of Haemoglobin Bart’s hydrops fetalis due to uniparental disomy or non-paternity. Fetal Diagn Ther. 2014;35(4):306–308
  • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360–362
  • Kan AS, Lau ET, Tang WF, et al. Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong. PLoS One. 2014;9(2):e87988
  • Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006;14(11):1158–1169
  • Ngo KY, Lee J, Dixon D, et al. Paternal uniparental isodisomy in a hydrops fetalis α-thalassemia fetus. Am J Hum Genet. 1993;53(Suppl):A1207 (abstract)
  • Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, et al. Maternal uniparental disomy of chromosome 16 resulting in Hemoglobin Bart’s hydrops fetalis. Clin Genet. 2008;74(3):284–287
  • Ceballos-Picot I, Guest G, Moriniere V, et al. Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency. Clin Genet. 2011;80(2):199–201
  • Malvagia S, Papi L, Morrone A, et al. Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Ann Hum Genet. 2007;71(Pt 6):705–712
  • Kalousek DK, Langlois S, Barrett I, et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993;52(1):8–16

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