Genomic analysis of partial 21q monosomies with variable phenotypes (original) (raw)

References

  1. Lejeune J, Berger R, Rethore MO et al: Partial monosomy for a small acrocentric chromosome. C R Hebd Seances Acad Sci 1964; 259: 4187–4190.
    CAS PubMed Google Scholar
  2. Lyle R, Béna F, Gagos S et al: Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 2009; 17: 454–466.
    Article CAS Google Scholar
  3. Firth HV, Richards SM, Bevan AP et al: DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 2009; 84: 524–533.
    Article CAS Google Scholar
  4. Ting JC, Roberson EDO, Miller ND et al: (2007) Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutation 2007; 28: 1225–1235.
    Article Google Scholar
  5. Yao G, Chen X-N, Flores-Sarnet L et al: Deletion of chromosome 21 disturbs human brain morphogenesis. Genetics in Medicine 2006; 8: 1–7.
    Article Google Scholar
  6. Keren B, Bernardin C, Toutain A et al: Pure proximal deletion of chromosome 21 and kyphosis. Eur J Med Genet 2007; 50: 469–474.
    Article Google Scholar
  7. Takhar J, Malla AK, Siu V et al: An interstitial deletion of the long arm of chromosome 21 in a case of a first episode of psychosis. Acta Psychiatrica Scandinavica 2002; 106: 71–74.
    Article CAS Google Scholar
  8. Chettouh Z, Croquette M-F, Delobel B et al: Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region. Am J Hum Genet 1995; 57: 62–71.
    CAS PubMed PubMed Central Google Scholar
  9. Lindstrand A, Malmgren H, Sahlén S et al: Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 2010; 77: 145–154.
    Article CAS Google Scholar
  10. Ehling D, Kennerknecht I, Junge A et al: Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies. Am J Med Genet Part A 2004; 131A: 265–272.
    Article Google Scholar
  11. Tinkel-Vernon H, Finkernagel S, Desposito F et al: Patient with a deletion of chromosome 21q and minimal phenotype. Am J Med Genet Part A 2003; 120A: 142–143.
    Article Google Scholar

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Acknowledgements

The authors sincerely thank the families participating in this study. We thank Nathaniel D. Miller for helpful comments on the manuscript. This work was supported in part by NIH Grant HD024061 (J.P. and GHT) and the Stem Cell Resource Center at Johns Hopkins Institute of Cell Engineering (JP).

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Author notes

  1. Elisha D O Roberson
    Present address: 8Current address: Department of Genetics, Washington University, CB8232, 4566 Scott Avenue, St Louis, Missouri, MO 63110 USA.,
  2. Jay Leonard
    Present address: 9Current address: Genzyme Corp., 2000 Vivigen Way, Santa Fe, NM 87505 USA.,

Authors and Affiliations

  1. Program in Human Genetics, Johns Hopkins School of Medicine, Baltimore, MD, USA
    Elisha D O Roberson & Eric L Stevens
  2. Department of Neurology, Hugo Moser Institute at Kennedy Krieger, Baltimore, MD, USA
    Elisha D O Roberson & Jonathan Pevsner
  3. Department of Genetics, Hugo Moser Institute at Kenney Krieger, Baltimore, MD, USA
    Elizabeth Squibb Wohler & George H Thomas
  4. Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA
    Julie E Hoover-Fong, George H Thomas & Ada Hamosh
  5. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA
    Julie E Hoover-Fong, Emily Lisi, George H Thomas & Ada Hamosh
  6. Coriell Cell Culture Repositories, Camden, NJ, USA
    Jay Leonard
  7. Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA
    Jonathan Pevsner

Authors

  1. Elisha D O Roberson
  2. Elizabeth Squibb Wohler
  3. Julie E Hoover-Fong
  4. Emily Lisi
  5. Eric L Stevens
  6. George H Thomas
  7. Jay Leonard
  8. Ada Hamosh
  9. Jonathan Pevsner

Corresponding author

Correspondence toJonathan Pevsner.

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Competing interests

The authors declare no conflict of interest.

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Supplementary Information accompanies the paper on European Journal of Human Genetics website

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Roberson, E., Wohler, E., Hoover-Fong, J. et al. Genomic analysis of partial 21q monosomies with variable phenotypes.Eur J Hum Genet 19, 235–238 (2011). https://doi.org/10.1038/ejhg.2010.150

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