Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.
We report on a patient with a de novo translocation between the long arms of chromosomes 14 and 18. The translocation was studied using microdissection in combination with fluorescence in situ hybridization (micro-FISH). Five copies of the chromosomes involved in the translocation were isolated by microdissection and amplified by means of degenerate oligonucleotide primed-polymerase chain reaction (DOP-PCR). Reverse chromosome painting with the biotin-labeled PCR product showed that part of the q-arm of chromosome 18 had no signal. The deletion was characterized further by FISH with band-specific probes and it was concluded that the rearrangement was unbalanced: 46,XY,t(14;18)(14pter-->14q22::18q21.1-->18qter) (18pter-->18q12.2::14q22-->14qter). The patient, who presented with psychomotor retardation, mild obesity, pes equinovarus, strabismus, and facial anomalies, is compared with previously reported patients with an interstitial deletion of band 18q12.
Engelen
J J
JJ
Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands.
Loots
W J
WJ
Albrechts
J C
JC
Plomp
A S
AS
van der Meer
S B
SB
Vles
J S
JS
Hamers
G J
GJ
Geraedts
J P
JP
D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D015342:DNA Probes; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*
D015342:DNA Probes