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Partial trisomy 2q
Author(s) -
Schumacher Robert E.,
Rocchini Albert P.,
Wilson Golder N.
Publication year - 1983
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.1399-0004.1983.tb01871.x
Subject(s) - partial trisomy , gene duplication , trisomy , biology , chromosome , long arm , phenotype , genetics , karyotype , gene
An infant with unusual facies and anomalies of brain, heart, and kidney was found to have a simple duplication of the distal long arm of chromosome 2. The clinical features of this case refine the phenotypic spectrum of partial trisomy 2q; prior cases had more complicated chromosomal rearrangements.