Tobias, E.S. , Morrison, N., Whiteford, M.L. and Tolmie, J.L. (1999) Towards earlier diagnosis of 22q11 deletions. Archives of Disease in Childhood, 81(6), pp. 513-514. (doi: 10.1136/adc.81.6.513)
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Abstract
Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Tobias, Professor Edward |
| Authors: | Tobias, E.S., Morrison, N., Whiteford, M.L., and Tolmie, J.L. |
| Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General) |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities |
| Journal Name: | Archives of Disease in Childhood |
| ISSN: | 0003-9888 |
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