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Proximal duplication of the long arm of chromosome 10 (10q11.2 → 10q22): a distinct clinical entity
Author(s) -
Fryns J. P.,
Kleczkowska A.,
IgodtAmeye L.,
Berghe H. Van den
Publication year - 1987
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.1399-0004.1987.tb03325.x
Subject(s) - gene duplication , genetics , biology , chromosome , medicine , gene
This report summarizes the clinical and cytogenetic findings in a 16‐year‐old moderately mentally retarded girl with lOql 1.2→10q22 duplication. The phenotypic findings are identical to those found in one other patient with the same autosomal duplication. These data suggest that proximal lOql 1.2–10q22 duplication is associated with a specific clinically recognizable syndrome.