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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| Format: | Article |
| Language: | English |
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Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
2009
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| Online Access: | http://psasir.upm.edu.my/id/eprint/7744/ http://psasir.upm.edu.my/id/eprint/7744/1/Pilonidal%20Sinus.pdf |
| _version_ | 1848840680846131200 |
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| author | Rahoma, Ahmed Hussein |
| author_facet | Rahoma, Ahmed Hussein |
| author_sort | Rahoma, Ahmed Hussein |
| building | UPM Institutional Repository |
| collection | Online Access |
| 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. |
| first_indexed | 2025-11-15T07:31:12Z |
| format | Article |
| id | upm-7744 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T07:31:12Z |
| publishDate | 2009 |
| publisher | Faculty of Medicine and Health Sciences, Universiti Putra Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-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 |
| spellingShingle | Rahoma, Ahmed Hussein Pilonidal sinus: why does it recur |
| title | 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_short | Pilonidal sinus: why does it recur |
| title_sort | pilonidal sinus: why does it recur |
| url | http://psasir.upm.edu.my/id/eprint/7744/ http://psasir.upm.edu.my/id/eprint/7744/ http://psasir.upm.edu.my/id/eprint/7744/1/Pilonidal%20Sinus.pdf |