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Absence of predictable phenotypic expression in proximal 15q duplications
Author(s) -
Ludowese Carol J.,
Thompson Kate J.,
Sekhon Gurbax S.,
Pauli Richard M.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03076.x
Subject(s) - gene duplication , phenotype , genetics , biology , gene
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.