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A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization
Author(s) -
Flaherty L.,
Moloney J.,
Watson N.,
Robson L.,
Bousfield L.,
Smith A.
Publication year - 1998
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1046/j.1365-2788.1998.00118.x
Subject(s) - monosomy , fluorescence in situ hybridization , chromosomal translocation , down syndrome , cytogenetics , biology , aneuploidy , fish <actinopterygii> , genetics , karyotype , chromosome , gene , fishery
A case is presented in which monosomy 21 was detected by routine cytogenetics and fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced translocation t(5;21). The patient was partially monosomic for both 5p and 21q. The phenotype of the infant showed some features of the 5p‐ (cri‐du‐chat) syndrome, but there were also features present which were uncharacteristic of this syndrome. The present findings, combined with similar cases reported in the literature, provide further support for a proximal monosomy 21q syndrome.