Pilonidal sinus: why does it recur

Introduction: Ring formation, a structural chromosomal abnormality, is frequently observed in X chromosome. This article reports the 45,X along with 46,X, r(X) cell lines and its associations to the observed phenotypic features in an Indian female proband aged 15 years. Methods: The karyotype was de...

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Main Author: Rahoma, Ahmed Hussein
Format: Article
Language:English
Published: Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2009
Online Access:http://psasir.upm.edu.my/id/eprint/7744/1/Pilonidal%20Sinus.pdf
http://psasir.upm.edu.my/id/eprint/7744/
http://www.medic.upm.edu.my/dokumen/FKUSK1_MJMHS_2009V05N2_CS03.pdf
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spelling my.upm.eprints.77442015-10-07T08:58:26Z http://psasir.upm.edu.my/id/eprint/7744/ Pilonidal sinus: why does it recur Rahoma, Ahmed Hussein Introduction: Ring formation, a structural chromosomal abnormality, is frequently observed in X chromosome. This article reports the 45,X along with 46,X, r(X) cell lines and its associations to the observed phenotypic features in an Indian female proband aged 15 years. Methods: The karyotype was determined from peripheral lymphocyte culture and Giemsa-Trypsin banding technique. Results: The karyotype was 45,X/46,X,r(X) (p11q13) (18%82%). The presence of 45,X and ring X in mosaicism status indicates that the karyotype is a Turner syndrome variant. The variably manifested phenotypic features in the proband could be due to the presence of single X, the lost segments in ring X and the mosaicism status for the X. Conclusion: During counseling, proband’s chromosomal status and its effect were explained to the proband’s parents. Parents were also counselled about the importance of medical management, education and career to the proband. Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2009 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/7744/1/Pilonidal%20Sinus.pdf Rahoma, Ahmed Hussein (2009) Pilonidal sinus: why does it recur. Malaysian Journal of Medicine and Health Sciences, 5 (2). pp. 69-77. ISSN 1675-8544 http://www.medic.upm.edu.my/dokumen/FKUSK1_MJMHS_2009V05N2_CS03.pdf
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
description Introduction: Ring formation, a structural chromosomal abnormality, is frequently observed in X chromosome. This article reports the 45,X along with 46,X, r(X) cell lines and its associations to the observed phenotypic features in an Indian female proband aged 15 years. Methods: The karyotype was determined from peripheral lymphocyte culture and Giemsa-Trypsin banding technique. Results: The karyotype was 45,X/46,X,r(X) (p11q13) (18%82%). The presence of 45,X and ring X in mosaicism status indicates that the karyotype is a Turner syndrome variant. The variably manifested phenotypic features in the proband could be due to the presence of single X, the lost segments in ring X and the mosaicism status for the X. Conclusion: During counseling, proband’s chromosomal status and its effect were explained to the proband’s parents. Parents were also counselled about the importance of medical management, education and career to the proband.
format Article
author Rahoma, Ahmed Hussein
spellingShingle Rahoma, Ahmed Hussein
Pilonidal sinus: why does it recur
author_facet Rahoma, Ahmed Hussein
author_sort Rahoma, Ahmed Hussein
title Pilonidal sinus: why does it recur
title_short Pilonidal sinus: why does it recur
title_full Pilonidal sinus: why does it recur
title_fullStr Pilonidal sinus: why does it recur
title_full_unstemmed Pilonidal sinus: why does it recur
title_sort pilonidal sinus: why does it recur
publisher Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
publishDate 2009
url http://psasir.upm.edu.my/id/eprint/7744/1/Pilonidal%20Sinus.pdf
http://psasir.upm.edu.my/id/eprint/7744/
http://www.medic.upm.edu.my/dokumen/FKUSK1_MJMHS_2009V05N2_CS03.pdf
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score 13.160551