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. 1999 Dec;81(6):513-4.
doi: 10.1136/adc.81.6.513.

Towards earlier diagnosis of 22q11 deletions

E S Tobias  1 , N Morrison, M L Whiteford, J L Tolmie
Affiliations

Towards earlier diagnosis of 22q11 deletions

E S Tobias et al. Arch Dis Child. 1999 Dec.

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.

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