Open Access

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

  • Published online on: October 10, 2017     https://doi.org/10.3892/mmr.2017.7760
  • Pages:8808-8818
  • Copyright: © Papadopoulou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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December 2017
Volume 16 Issue 6

Print ISSN: 1791-2997
Online ISSN:1791-3004

2016 Impact Factor: 1.692
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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