Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4165240 | The Journal of Pediatrics | 2013 | 8 Pages |
Abstract
Genotype-phenotype correlation revealed extensive clinical variability but no characteristic r(18) phenotype. Severity of clinical signs were generally correlated with the size of the deletion. Patients with large deletions in 18p and small deletions in 18q exhibited mainly symptoms related to 18p-, whereas those with large deletions in 18q and small deletions in 18p had symptoms of 18q-.
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Authors
Ana MS, Roberta S. PhD, Claudio MD, Andrew MD, Olaf MD, Brigitte MD, Barbara MD, Martin PhD, Christine MD, Edda MD, Chong A. PhD, Leslie D. PhD, Vera A. MD, Gerd MD, Johannes MD, PhD, Maria I. PhD, Dieter MD,