A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft LipPalate
Joint Authors
Rezek, Regina Ferreira
Rodrigues Abbas, Ana Angélica
Forte Mazzeu, Juliana
Duarte Miranda, Siliana Maria
Velloso-Rodrigues, Cibele
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-11-24
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rezek, Regina Ferreira& Rodrigues Abbas, Ana Angélica& Forte Mazzeu, Juliana& Duarte Miranda, Siliana Maria& Velloso-Rodrigues, Cibele. 2014. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft LipPalate. Case Reports in Dentistry،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1016942
Modern Language Association (MLA)
Rezek, Regina Ferreira…[et al.]. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft LipPalate. Case Reports in Dentistry No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-1016942
American Medical Association (AMA)
Rezek, Regina Ferreira& Rodrigues Abbas, Ana Angélica& Forte Mazzeu, Juliana& Duarte Miranda, Siliana Maria& Velloso-Rodrigues, Cibele. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft LipPalate. Case Reports in Dentistry. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-1016942
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1016942