BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P

Citation
D. Concolino et al., BRIEF CLINICAL REPORT - CENTRIC FISSION OF CHROMOSOME-9 IN A BOY WITHTRISOMY 9P, American journal of medical genetics, 79(1), 1998, pp. 35-37
Citations number
20
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
79
Issue
1
Year of publication
1998
Pages
35 - 37
Database
ISI
SICI code
0148-7299(1998)79:1<35:BCR-CF>2.0.ZU;2-Q
Abstract
A centric fission of chromosome 9 was found in a boy with trisomy 9p r esulting from a de novo del (9p) and a 9p isochromosome. The patient p resented with clinical findings similar to those described in previous ly reported cases of trisomy 9p. The cytogenetic evaluation and the mo lecular analysis using fluorescence in situ hybridization (FISH) with specific alphoid probe for chromosome 9 showed a karyotype of 47,XY,+d el(9) (q10),+i(9p). We suggest that the mechanism leading to this situ ation is unusual. (C) 1998 Wiley-Liss, Inc.