Trisomy 6q syndrome: A case with a << de novo >> 6q23 tandem duplication

Authors
Causio, F Fischetto, R Carnevale, F Pansini, A Rocchi, M
Citation
F. Causio et al., Trisomy 6q syndrome: A case with a << de novo >> 6q23 tandem duplication, GEN COUNSEL, 12(2), 2001, pp. 145-150
Citations number
11
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146 → ACNP
Volume
12
Issue
2
Year of publication
2001
Pages
145 - 150
Database
ISI
SICI code
1015-8146(2001)12:2<145:T6SACW>2.0.ZU;2-L
Abstract
In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de nov o 6q+ marker chromosome. A male patient with peculiar features of "distal 6 q trisomy syndrome" showed a direct duplication of 6q23 region. Comparing t he phenotype of this child with the phenotype of other "de novo" partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q t risomy.