A case of de novo translocation 16;21: Trisomy 16q phenotype and origin ofthe aberration.

Authors
Eggermann, T Kolin-Gerresheim, I Gerresheim, F Schwanitz, G
Citation
T. Eggermann et al., A case of de novo translocation 16;21: Trisomy 16q phenotype and origin ofthe aberration., ANN GENET, 41(4), 1998, pp. 205-208
Citations number
12
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
41
Issue
4
Year of publication
1998
Pages
205 - 208
Database
ISI
SICI code
0003-3995(1998)41:4<205:ACODNT>2.0.ZU;2-Z
Abstract
A male newborn with severe congenital abnormalities is described with a de- novo translocation 16;21 resulting in trisomy 16q. Clinical features were c onsistent with trisomy 16q cases reported in the literature. Molecular anal ysis indicate a formation mechanism of the rearrangement restricted to post zygotic mitosis. Therefore, a low recurrence risk for the parents could be delineated.