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)
Full text not currently available from Enlighten.
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.
|Glasgow Author(s):||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|