Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.
We investigated a girl with dysmorphic features and moderate developmental delay by subtelomeric FISH (fluorescence in-situ hybridization). We found an unbalanced cryptic translocation, t(9;14)(q34.3;q32.33), resulting in a subtelomeric deletion of 14q and duplication of 9q deriving from a balanced translocation in the mother. A review of the literature suggests that the phenotype of our case is related to the 14 qter deletion, without signs of concomitant partial trisomy 9. The case reinforces the value of subtelomeric screening for genetic counselling.
Leube
Barbara
B
Institute of Human Genetics, University of Duesseldorf, POB 101007, 40001 Duesseldorf, Germany. leube@uni-duesseldorf.de
Majewski
Frank
F
Drechsler
Matthias
M
Royer-Pokora
Brigitte
B
D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D010641:Phenotype; D016615:Telomere; D014178:Translocation, Genetic