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Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

  • Authors:
    • Zoe Papadopoulou
    • Ioannis Papoulidis
    • Stavros Sifakis
    • Georgios Markopoulos
    • Annalisa Vetro
    • Angeliki‑Maria Vlaikou
    • Monica Ziegler
    • Thomas Liehr
    • Loretta Thomaidis
    • Orsetta Zuffardi
    • Maria Syrrou
    • Kitsos George
    • Emmanouil Manolakos
  • View Affiliations / Copyright

    Affiliations: Laboratory of Biology, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina 45110, Greece, Access To Genome, Laboratory of Genetics, Athens 11528‑Thessaloniki 55134, Greece, Department of Obstetrics and Gynecology, University Hospital of Heraklion, Heraklion 71201, Greece, Department of Molecular Medicine, University of Pavia, I‑27100 Pavia, Italy, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D‑07743 Jena, Germany, Developmental Assessment Unit, 2nd Department of Pediatrics, P. & A. Kyriakou Children's Hospital, National and Kapodistrian University of Athens School of Medicine, Athens 11527, Greece, Department of Ophthalmology, University of Ioannina, Ioannina 45110, Greece
    Copyright: © Papadopoulou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 8808-8818
    |
    Published online on: October 10, 2017
       https://doi.org/10.3892/mmr.2017.7760
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Abstract

Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the present study. The first patient was a 10‑year‑old boy with mild developmental delay and minor congenital anomalies (borderline microcephaly, clinodactyly, hypertelorism, epicanthus, mild systolic murmur and kidney reflux). The second patient was a 3 year‑old girl with developmental delay, gross motor milestone delay and dysmorphic features. Array‑comparative genomic hybridization analysis revealed that partial chromosome 8p monosomy extended from 8p23.2 to 8pter (4.8 Mb) in Patient 1 and from 8p23.1 to 8pter (9.5 Mb) in Patient 2, and partial chromosome 16 trisomy extended from 16q23.3 to 16qter (5.6 Mb) in Patient 1 and from 16q23.1 to 16qter (11.7 Mb) in Patient 2. The mechanism of appearance of the rearrangement in association with the genes involved and the architecture of the region is discussed.
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Copy and paste a formatted citation
Spandidos Publications style
Papadopoulou Z, Papoulidis I, Sifakis S, Markopoulos G, Vetro A, Vlaikou AM, Ziegler M, Liehr T, Thomaidis L, Zuffardi O, Zuffardi O, et al: Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization. Mol Med Rep 16: 8808-8818, 2017.
APA
Papadopoulou, Z., Papoulidis, I., Sifakis, S., Markopoulos, G., Vetro, A., Vlaikou, A. ... Manolakos, E. (2017). Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization. Molecular Medicine Reports, 16, 8808-8818. https://doi.org/10.3892/mmr.2017.7760
MLA
Papadopoulou, Z., Papoulidis, I., Sifakis, S., Markopoulos, G., Vetro, A., Vlaikou, A., Ziegler, M., Liehr, T., Thomaidis, L., Zuffardi, O., Syrrou, M., George, K., Manolakos, E."Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization". Molecular Medicine Reports 16.6 (2017): 8808-8818.
Chicago
Papadopoulou, Z., Papoulidis, I., Sifakis, S., Markopoulos, G., Vetro, A., Vlaikou, A., Ziegler, M., Liehr, T., Thomaidis, L., Zuffardi, O., Syrrou, M., George, K., Manolakos, E."Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization". Molecular Medicine Reports 16, no. 6 (2017): 8808-8818. https://doi.org/10.3892/mmr.2017.7760
Copy and paste a formatted citation
x
Spandidos Publications style
Papadopoulou Z, Papoulidis I, Sifakis S, Markopoulos G, Vetro A, Vlaikou AM, Ziegler M, Liehr T, Thomaidis L, Zuffardi O, Zuffardi O, et al: Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization. Mol Med Rep 16: 8808-8818, 2017.
APA
Papadopoulou, Z., Papoulidis, I., Sifakis, S., Markopoulos, G., Vetro, A., Vlaikou, A. ... Manolakos, E. (2017). Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization. Molecular Medicine Reports, 16, 8808-8818. https://doi.org/10.3892/mmr.2017.7760
MLA
Papadopoulou, Z., Papoulidis, I., Sifakis, S., Markopoulos, G., Vetro, A., Vlaikou, A., Ziegler, M., Liehr, T., Thomaidis, L., Zuffardi, O., Syrrou, M., George, K., Manolakos, E."Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization". Molecular Medicine Reports 16.6 (2017): 8808-8818.
Chicago
Papadopoulou, Z., Papoulidis, I., Sifakis, S., Markopoulos, G., Vetro, A., Vlaikou, A., Ziegler, M., Liehr, T., Thomaidis, L., Zuffardi, O., Syrrou, M., George, K., Manolakos, E."Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization". Molecular Medicine Reports 16, no. 6 (2017): 8808-8818. https://doi.org/10.3892/mmr.2017.7760
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