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A brief review of cryptic duplications of 21q as an emerging cause of Down syndrome: practical considerations for accurate detection
Author(s) -
GarciaHeras Jaime,
Nagesh Rao P
Publication year - 1999
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 - 10.1034/j.1399-0004.1999.550310.x
Subject(s) - fish <actinopterygii> , chromosomal translocation , fluorescence in situ hybridization , gene duplication , biology , genetics , down syndrome , computational biology , phenotype , bioinformatics , evolutionary biology , gene , chromosome , fishery
We review five cryptic duplications of 21q in patients with Down syndrome (DS) that were inherited from parental balanced translocations. All cases were identified by fluorescence in situ hybridization (FISH) and/or DNA diagnosis because the phenotype was inconsistent with the initial cytogenetic studies. These rearrangements seem to escape detection without expanded testing and are probably more frequent than expected. For this reason we propose a series of steps combining objective clinical diagnostic criteria, FISH and DNA methods to achieve an accurate ascertainment.