DE-NOVO CONCURRENT 5P DELETION AND DISTAL 17Q DUPLICATION IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH)

Authors
SZEGO K RAUER M BARATTA E HOO JJ
Citation
K. Szego et al., DE-NOVO CONCURRENT 5P DELETION AND DISTAL 17Q DUPLICATION IDENTIFIED BY FLUORESCENCE IN-SITU HYBRIDIZATION (FISH), Annales de genetique, 36(4), 1993, pp. 224-227
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
36
Issue
4
Year of publication
1993
Pages
224 - 227
Database
ISI
SICI code
0003-3995(1993)36:4<224:DC5DAD>2.0.ZU;2-9
Abstract
A de novo case of unbalanced 5p/17q translocation showing a concurrent 5p deletion and distal 17q duplication has initially eluded a definit ive cytogenetic identification based on chromosome banding patterns an d clinical features. But it is subsequently unequivocally identified b y fluorescence in situ hybridization technique using various whole chr omosome painting probes.