title: A rare interstitial duplication of 8q22.1-8q24.3 associated with syndromic bilateral cleft lip/palate.
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.
authors.affiliation: Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, Brazil.
authors.forename: Regina Ferreira
authors.initials: RF
authors.lastname: Rezek
authors.affiliation: Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, Brazil.
authors.forename: Ana Angélica
authors.initials: AA
authors.lastname: Rodrigues Abbas
authors.affiliation: Catholic University of Brasília (UCB), 70790-160 Brasília, DF, Brazil.
authors.forename: Juliana
authors.initials: J
authors.lastname: Forte Mazzeu
authors.affiliation: Genetic Technology Laboratory, BIOCOD, 30140-070 Belo Horizonte, MG, Brazil.
authors.forename: Siliana Maria
authors.initials: SM
authors.lastname: Duarte Miranda
authors.affiliation: Institute 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.
authors.forename: Cibele
authors.initials: C
authors.lastname: Velloso-Rodrigues