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Case Reports in Medicine
Volume 2011, Article ID 708450, 5 pages
http://dx.doi.org/10.1155/2011/708450
Case Report

Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

1Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110029, India
2Dr. R.P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110029, India
3Department of Ocular Biochemistry, Dr. R.P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi 110029, India

Received 10 January 2011; Accepted 31 March 2011

Academic Editor: Hermann E. Wasmuth

Copyright © 2011 Manoj Kumar et al. 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.

Abstract

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.