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A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features Cover

A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features

By: A Türkyılmaz and  O Yaralı  
Open Access
|Aug 2020

References

  1. Hansson K, Dauwerse H, Gijsbers A, van Diepen M, Ruivenkamp C, Kant S. Interstitial duplication in the proximal long armof chromosome 16. Am J Med Genet A. 2010; 152A(7): 1858-1761.
  2. Odak L, Barisić I, Morozin Pohovski L, Riegel M, Schinzel A. Novel duplication on chromosome 16 (ql2.1-q21) associated with behavioral disorder, mild cognitive impairment speech delay, and dysmorphic features: case report. Croat Med J. 2011 ; 52(3): 415-422.
  3. Gustavsson P, Schoumans J, Staaf J, Borg A, Nordenskjöld M, Anneren G. Duplication 16q12. 1-q22.1 characterized by array CGh in a girl with spina bifida. Eur J Med Genet. 2007; 50(3): 237-241.
  4. Wu X, Xu L, Li Y, Lin N, Su L, Cai M, et al. Submicroscopic aberrations of chromosome 16 in prenatal diagnosis. Mol Cytogenet. 2019; 12:36. doi: 10.1186/sl3039-019-0448-y. eCollection 2019.
  5. Fryns JP, Kleczkowska A, Decock P, Van den Berghe H. Direct duplication 16q11.1-----16q13 is not associated with a typical dysmorphic syndrome. Ann Genet. 1990; 33(1): 46-48.
  6. Barber JC, Zhang S, Friend N, Collins AL, Maloney VK, Hastings R, et al. Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. Cytogenet Genome Res. 2006; 114(3-4): 351-358.
  7. Mascarello JT, Hubbard V. Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. Am J Med Genet. 1991; 38: 37-42.
  8. Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, et al. Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. Am J Med Genet A. 2011; 155A(4): 769-777.
  9. Mariner R, Jackson AW 3rd, Levitas A, Hagerman RJ, Braden M, McBogg PM, et al. Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord. 1986; 16(4): 425-440.
  10. Tokutomi T, Wada T, Nakagawa E, Saitoh S, Sasaki M. A de novo direct duplication of 16q22.1➝q23.1 in a boy with midface hypoplasia and mental retardation. Am J Med Genet A. 2009; 149A(11): 2560-2563.
  11. Hirai S, Ujue J, Suzuki J, Ishiama S, Tsukanishi A, Muramoto J, et al. Duplication of the long arm of chromosome 16. Jpn J Pediatr. 1981; 34(2): 1963-1967.
Language: English
Page range: 103 - 108
Published on: Aug 26, 2020
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2020 A Türkyılmaz, O Yaralı, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.