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Towards earlier diagnosis of 22q11 deletions

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. ISSN 0003-9888 (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:Article
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Tobias, Prof 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 > Clinical Specialities
Journal Name:Archives of Disease in Childhood
ISSN:0003-9888

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