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Towards earlier diagnosis of 22q11 deletions Tobias ES; Morrison N; Whiteford ML; Tolmie JLArch Dis Child 1999[Dec]; 81 (6): 513-4Over 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.|*Chromosome Deletion[MESH]|*Chromosomes, Human, Pair 22[MESH]|Abnormalities, Multiple/*diagnosis[MESH]|Adolescent[MESH]|Adult[MESH]|Child[MESH]|Child, Preschool[MESH]|Craniofacial Abnormalities/diagnosis[MESH]|DiGeorge Syndrome/genetics[MESH]|Heart Defects, Congenital/diagnosis[MESH]|Humans[MESH]|In Situ Hybridization, Fluorescence[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Male[MESH]|Tetralogy of Fallot/genetics[MESH]|Time Factors[MESH] |
