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Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)
Author(s) -
Jaziorowska A.,
Houck G. E.,
Yao X.L.,
SklowerBrooks S. L.,
Wisniewski K. E.,
Jenkins E. C.,
Wisniewski H. M.
Publication year - 1992
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.1399-0004.1992.tb03223.x
Subject(s) - fluorescence in situ hybridization , biology , karyotype , marker chromosome , chromosome , genetics , chromosome 21 , microbiology and biotechnology , in situ hybridization , chromosome 12 , gene , gene expression
We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12.