Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical...
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2011/708450 |
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| author | Manoj Kumar Rakesh Kumar Mukesh Tanwar Supriyo Ghose Jasbir Kaur Rima Dada |
| author_facet | Manoj Kumar Rakesh Kumar Mukesh Tanwar Supriyo Ghose Jasbir Kaur Rima Dada |
| author_sort | Manoj Kumar |
| collection | DOAJ |
| description | Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution. |
| format | Article |
| id | doaj-art-8e12cda47b2e44dca06e76d2e6b7543d |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-8e12cda47b2e44dca06e76d2e6b7543d2025-08-20T03:37:57ZengWileyCase Reports in Medicine1687-96271687-96352011-01-01201110.1155/2011/708450708450Cytogenetic and Clinical Assessment of a Family with Treacher Collins SyndromeManoj Kumar0Rakesh Kumar1Mukesh Tanwar2Supriyo Ghose3Jasbir Kaur4Rima Dada5Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, IndiaLaboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, IndiaLaboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, IndiaDr. R.P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110029, IndiaDepartment of Ocular Biochemistry, Dr. R.P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110029, IndiaLaboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, IndiaTreacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.http://dx.doi.org/10.1155/2011/708450 |
| spellingShingle | Manoj Kumar Rakesh Kumar Mukesh Tanwar Supriyo Ghose Jasbir Kaur Rima Dada Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome Case Reports in Medicine |
| title | Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome |
| title_full | Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome |
| title_fullStr | Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome |
| title_full_unstemmed | Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome |
| title_short | Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome |
| title_sort | cytogenetic and clinical assessment of a family with treacher collins syndrome |
| url | http://dx.doi.org/10.1155/2011/708450 |
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