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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 r...

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Autores principales: Kumar, Manoj, Kumar, Rakesh, Tanwar, Mukesh, Ghose, Supriyo, Kaur, Jasbir, Dada, Rima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135159/
https://www.ncbi.nlm.nih.gov/pubmed/21765846
http://dx.doi.org/10.1155/2011/708450
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author Kumar, Manoj
Kumar, Rakesh
Tanwar, Mukesh
Ghose, Supriyo
Kaur, Jasbir
Dada, Rima
author_facet Kumar, Manoj
Kumar, Rakesh
Tanwar, Mukesh
Ghose, Supriyo
Kaur, Jasbir
Dada, Rima
author_sort Kumar, Manoj
collection PubMed
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.
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spelling pubmed-31351592011-07-15 Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome Kumar, Manoj Kumar, Rakesh Tanwar, Mukesh Ghose, Supriyo Kaur, Jasbir Dada, Rima Case Rep Med Case Report 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. Hindawi Publishing Corporation 2011 2011-06-23 /pmc/articles/PMC3135159/ /pubmed/21765846 http://dx.doi.org/10.1155/2011/708450 Text en Copyright © 2011 Manoj Kumar et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kumar, Manoj
Kumar, Rakesh
Tanwar, Mukesh
Ghose, Supriyo
Kaur, Jasbir
Dada, Rima
Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135159/
https://www.ncbi.nlm.nih.gov/pubmed/21765846
http://dx.doi.org/10.1155/2011/708450
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