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Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome
Joint Authors
Ghose, Supriyo
Dada, Rima
Tanwar, Mukesh
Kumar, Manoj
Kumar, Rakesh
Kaur, Jasbir
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-06-23
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kumar, Manoj& Kumar, Rakesh& Tanwar, Mukesh& Ghose, Supriyo& Kaur, Jasbir& Dada, Rima. 2011. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome. Case Reports in Medicine،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-492258
Modern Language Association (MLA)
Kumar, Manoj…[et al.]. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome. Case Reports in Medicine No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-492258
American Medical Association (AMA)
Kumar, Manoj& Kumar, Rakesh& Tanwar, Mukesh& Ghose, Supriyo& Kaur, Jasbir& Dada, Rima. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome. Case Reports in Medicine. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-492258
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-492258