A Dysmorphic Child with a Pericentric Inversion of Chromosome 8
An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of ge...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2012/813963 |
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| author | Venkateshwari Ananthapur Srilekha Avvari Sujatha Madireddi Pratibha Nallari Jyothy Akka |
| author_facet | Venkateshwari Ananthapur Srilekha Avvari Sujatha Madireddi Pratibha Nallari Jyothy Akka |
| author_sort | Venkateshwari Ananthapur |
| collection | DOAJ |
| description | An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. |
| format | Article |
| id | doaj-art-bf18dbbd24e54d10abea79e2e8344d4f |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-bf18dbbd24e54d10abea79e2e8344d4f2025-02-03T01:02:30ZengWileyCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/813963813963A Dysmorphic Child with a Pericentric Inversion of Chromosome 8Venkateshwari Ananthapur0Srilekha Avvari1Sujatha Madireddi2Pratibha Nallari3Jyothy Akka4Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, IndiaInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, IndiaInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, IndiaDepartment of Genetics, Osmania University, Hyderabad 500 007, IndiaInstitute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, IndiaAn 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.http://dx.doi.org/10.1155/2012/813963 |
| spellingShingle | Venkateshwari Ananthapur Srilekha Avvari Sujatha Madireddi Pratibha Nallari Jyothy Akka A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 Case Reports in Pediatrics |
| title | A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 |
| title_full | A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 |
| title_fullStr | A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 |
| title_full_unstemmed | A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 |
| title_short | A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 |
| title_sort | dysmorphic child with a pericentric inversion of chromosome 8 |
| url | http://dx.doi.org/10.1155/2012/813963 |
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