Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18.
We report a patient with a de novo translocation 13/18, identified by high-resolution banding. The breakpoints were ascertained by fluorescence in situ hybridisation with whole chromosome 13 and 18 paints. Short tandem repeat typing demonstrated the aberration to be of combined maternal/paternal origin and thereby confirmed its de novo and postzygotic formation. Thus, a gonadal mosaic in one of the parents resulting in a higher recurrence risk could be excluded.
Eggermann
T
T
Abteilung für Klinische Genetik, Institut fúr Anthropologie und Humangenetik der Universität Tübingen, Germany.
Engels
H
H
Heidrich-Kaul
C
C
Moderau
I
I
Schwanitz
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002843:Chromatin; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D022041:Euchromatin; D005260:Female; D006801:Humans; D009006:Monosomy; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic; D014314:Trisomy
D002843:Chromatin; D022041:Euchromatin