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Absence of predictable phenotypic expression in proximal 15q duplications |
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| Authors: | Carol J Ludowese Kate J Thompson Gurbax S Sekhon Richard M Pauli |
| Institution: | Department of Medical Genetics, University of Wisconsin-Madison. |
| Abstract: | We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent. |
| Keywords: | chromosome duplication chromosome 15 karyotype-phenotype correlation Prader-Willi syndrome |