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FISH analysis of terminal deletions in patients diagnosed with cri‐du‐chat syndrome
Author(s) -
Catrinel Marinescu R,
Johnson Elizabeth I,
Grady Deborah,
Chen XiaoNing,
Overhauser Joan
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.1399-0004.1999.560405.x
Subject(s) - biology , karyotype , chromosomal translocation , fish <actinopterygii> , fluorescence in situ hybridization , cytogenetics , genetics , chromosome , telomere , microbiology and biotechnology , dna , gene , fishery
Most patients with cri‐du‐chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype–genotype correlation studies, a relatively easy method for the precise determination of the extent of a patient's deletion is essential. Towards this purpose, a set of minimally overlapping YAC clones that span 5p was identified. A BAC that maps at or near the 5p telomere was also used. A total of 110 patients with previously determined de novo terminal deletions by standard cytogenetic approaches were reanalyzed using the YAC clones and fluorescent in situ hybridization (FISH). Of the 110 samples, 4 patients were determined to have interstitial deletions, 1 patient had an unbalanced translocation, and no deletion could be detected in 2 patients. The FISH results in the 7 patients affect the clinical prognosis for some of these patients. These results demonstrate the need for supplementing standard cytogenetics with FISH analysis when an abnormal karyotype is detected.