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Atypical Down syndrome and partial trisomy 21
Author(s) -
Jenkins E. C.,
Duncan C. J.,
Wright C. E.,
Giordano F. M.,
Wilbur L.,
Wisniewski K.,
Sklower S. L.,
French J. H.,
Jones C.,
Brown W. T.
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.tb02219.x
Subject(s) - partial trisomy , trisomy , genetics , down syndrome , medicine , biology , karyotype , chromosome , gene
A case of “atypical” Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied. Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,‐12, + t(12pter to 12qter::21q21 to 21q22.?2). Additional studies of such atypical cases will provide more precise sublocalization for both gene and phenotypic mapping of the bands that are responsible for the DS phenotype.