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Case Reports in Dentistry
Volume 2014 (2014), Article ID 730375, 4 pages
http://dx.doi.org/10.1155/2014/730375
Case Report

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

1Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, Brazil
2Catholic University of Brasília (UCB), 70790-160 Brasília, DF, Brazil
3Genetic Technology Laboratory, BIOCOD, 30140-070 Belo Horizonte, MG, Brazil
4Institute of Biological Science, Department of Basic Sciences, Genetics, Federal University of Juiz de Fora (UFJF), Campus Universitário, Rua José Lourenço Kelmer, s/n, Bairro São Pedro, 36036-900 Juiz de Fora, MG, Brazil

Received 21 September 2014; Accepted 4 November 2014; Published 25 November 2014

Academic Editor: Wasiu L. Adeyemo

Copyright © 2014 Regina Ferreira Rezek et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.