Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children
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...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/1928918 |
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| author | Rathika Damodara Shenoy Vijaya Shenoy Vikram Shetty |
| author_facet | Rathika Damodara Shenoy Vijaya Shenoy Vikram Shetty |
| author_sort | Rathika Damodara Shenoy |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e8459e239f2540d6981b2ceb43a234f1 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-e8459e239f2540d6981b2ceb43a234f12025-02-03T05:52:10ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/19289181928918Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three ChildrenRathika Damodara Shenoy0Vijaya Shenoy1Vikram Shetty2Department of Pediatrics, K.S. Hegde Medical Academy, Nitte (Deemed to be University), Karnataka, IndiaDepartment of Pediatrics, K.S. Hegde Medical Academy, Nitte (Deemed to be University), Karnataka, IndiaNitte Meenakshi Institute of Craniofacial Surgery, Nitte (Deemed to be University), Karnataka, IndiaThis 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.http://dx.doi.org/10.1155/2018/1928918 |
| spellingShingle | Rathika Damodara Shenoy Vijaya Shenoy Vikram Shetty Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children Case Reports in Genetics |
| title | Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children |
| title_full | Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children |
| title_fullStr | Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children |
| title_full_unstemmed | Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children |
| title_short | Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children |
| title_sort | chromosomal abnormalities in syndromic orofacial clefts report of three children |
| url | http://dx.doi.org/10.1155/2018/1928918 |
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