A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate
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...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Dentistry |
| Online Access: | http://dx.doi.org/10.1155/2014/730375 |
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| author | Regina Ferreira Rezek Ana Angélica Rodrigues Abbas Juliana Forte Mazzeu Siliana Maria Duarte Miranda Cibele Velloso-Rodrigues |
| author_facet | Regina Ferreira Rezek Ana Angélica Rodrigues Abbas Juliana Forte Mazzeu Siliana Maria Duarte Miranda Cibele Velloso-Rodrigues |
| author_sort | Regina Ferreira Rezek |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-1ba13838c1d24640889d0cc2a99c3084 |
| institution | Kabale University |
| issn | 2090-6447 2090-6455 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Dentistry |
| spelling | doaj-art-1ba13838c1d24640889d0cc2a99c30842025-02-03T06:06:41ZengWileyCase Reports in Dentistry2090-64472090-64552014-01-01201410.1155/2014/730375730375A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/PalateRegina Ferreira Rezek0Ana Angélica Rodrigues Abbas1Juliana Forte Mazzeu2Siliana Maria Duarte Miranda3Cibele Velloso-Rodrigues4Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, BrazilPontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, BrazilCatholic University of Brasília (UCB), 70790-160 Brasília, DF, BrazilGenetic Technology Laboratory, BIOCOD, 30140-070 Belo Horizonte, MG, BrazilInstitute 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, BrazilWe 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.http://dx.doi.org/10.1155/2014/730375 |
| spellingShingle | Regina Ferreira Rezek Ana Angélica Rodrigues Abbas Juliana Forte Mazzeu Siliana Maria Duarte Miranda Cibele Velloso-Rodrigues A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate Case Reports in Dentistry |
| title | A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate |
| title_full | A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate |
| title_fullStr | A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate |
| title_full_unstemmed | A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate |
| title_short | A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate |
| title_sort | rare interstitial duplication of 8q22 1 8q24 3 associated with syndromic bilateral cleft lip palate |
| url | http://dx.doi.org/10.1155/2014/730375 |
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