Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
We report a patient presenting with oculoauriculovertebral spectrum and a de novo balanced reciprocal translocation t(9;18)(p23;q12.2). Physical mapping of the translocation breakpoints by fluorescent in situ hybridization showed that the breakpoints are located in two regions encompassing gene deserts. An additional paternally inherited duplication in 18p11.23p11.31 was identified by array-CGH. We discuss the possible involvement of these chromosomal abnormalities in OAVS.
Rooryck
Caroline
C
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France. caroline.rooryck-thambo@u-bordeaux2.fr
VuPhi
Yen
Y
Souakri
Noui
N
Burgelin
Ingrid
I
Saura
Robert
R
Lacombe
Didier
D
Arveiler
Benoît
B
Taine
Laurence
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003001:Cloning, Molecular; D003582:Cytogenetics; D004423:Ear / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics*; D020440:Gene Duplication; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D020161:Physical Chromosome Mapping; D014178:Translocation, Genetic