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Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children
Joint Authors
Shenoy, Rathika Damodara
Shenoy, Vijaya
Shetty, Vikram
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-09-09
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic.
All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism.
Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child.
Duplication 4q27q35.2 with concomitant deletion 21q22.2q22.3 and duplication 12p13.33p13.32 with concomitant deletion 18q22.3q23 seen in the remaining two children are not reported in literature.
Maternal balanced translocation was established in both of these children.
American Psychological Association (APA)
Shenoy, Rathika Damodara& Shenoy, Vijaya& Shetty, Vikram. 2018. Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143296
Modern Language Association (MLA)
Shenoy, Rathika Damodara…[et al.]. Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. Case Reports in Genetics No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1143296
American Medical Association (AMA)
Shenoy, Rathika Damodara& Shenoy, Vijaya& Shetty, Vikram. Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1143296
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143296