Article
2q35qter duplication syndrome: phenotypic definition.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1997
Grammatico P, Di Rosa C, Rinaldi R, Roccella M, Cupilari F, Sbezzi T, Del Porto G
Abstract excerpt
Two sibs with multiple congenital anomalies and severe mental retardation were found to have a 2q35qter duplication as a result of a balanced maternal translocation. The clinical features of our two cases are compared with those reported in literature as having either a 2q35qter duplication or a wider duplicated segment without the involvement of any other chromosome deletion or duplication. The typical phenotype...
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