Towards earlier diagnosis of 22q11 deletions.
case_series · Level IV
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- Record sourced from PubMed, PMID 10569971.
- Also identified by PMC identifier 1718153.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 22