MOLECULAR INVESTIGATION OF THE PARENTAL ORIGIN OF A DE-NOVO UNBALANCED TRANSLOCATION-13 18/

Citation
T. Eggermann et al., MOLECULAR INVESTIGATION OF THE PARENTAL ORIGIN OF A DE-NOVO UNBALANCED TRANSLOCATION-13 18/, Human genetics, 99(4), 1997, pp. 521-522
Citations number
5
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
99
Issue
4
Year of publication
1997
Pages
521 - 522
Database
ISI
SICI code
0340-6717(1997)99:4<521:MIOTPO>2.0.ZU;2-U
Abstract
We report a patient with a de novo translocation 13/18, identified by high-resolution banding. The breakpoints were ascertained by fluoresce nce in situ hybridisation with whole chromosome 13 and 18 paints. Shor t tandem repeat typing demonstrated the aberration to be of combined m aternal/paternal origin and thereby confirmed its de novo and postzygo tic formation. Thus, a gonadal mosaic in one of the parents resulting in a higher recurrence risk could be excluded.