Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case

Authors
Granata, P Mazzola, D Righi, R Minelli, E Salvatoni, A Baroli, P Maggi, F Casalone, R
Citation
P. Granata et al., Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case, ANN GENET, 43(1), 2000, pp. 45-50
Citations number
12
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
43
Issue
1
Year of publication
2000
Pages
45 - 50
Database
ISI
SICI code
0003-3995(200001/03)43:1<45:MCRAAC>2.0.ZU;2-P
Abstract
A new case of a de novo trisomy 10cen --> 10pter is described. The karyotyp e was exactly defined by high resolution banding and FISH analysis. the chr omosome aberration was of maternal meiotic origin as demonstrated by RFLP a nalysis. Clinical data are reported and correlated with other trisomy 10p c ases from the literature. A critical review or the literature was made to d efine the phenotype of trisomy 10p syndrome. (C) 2000 Editions scientifique s et medicales Elsevier SAS.