A NEW CASE OF COMPLETE TRISOMY 5P WITH ISOCHROMOSOME 5P ASSOCIATED WITH A DE-NOVO TRANSLOCATION T(58)(Q11P23)

Citation
M. Fujita et al., A NEW CASE OF COMPLETE TRISOMY 5P WITH ISOCHROMOSOME 5P ASSOCIATED WITH A DE-NOVO TRANSLOCATION T(58)(Q11P23), Clinical genetics, 45(6), 1994, pp. 305-307
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
45
Issue
6
Year of publication
1994
Pages
305 - 307
Database
ISI
SICI code
0009-9163(1994)45:6<305:ANCOCT>2.0.ZU;2-H
Abstract
A boy with a de novo translocation t(5;8)(q11;p23) and an isochromosom e 5p is described. The main clinical features found in the complete tr isomies 5p are reviewed and the mechanisms of the chromosomal rearrang ements involving centromeric and telomeric regions are discussed.