CHARACTERIZATION OF A DE-NOVO UNBALANCED TRANSLOCATION T(14Q18Q) USING MICRODISSECTION AND FLUORESCENCE IN-SITU HYBRIDIZATION

me report on a patient with a de novo translocation between the long a rms of chromosomes 14 and 18. The translocation was studied using micr odissection in combination with fluorescence in situ hybridization (mi cro-FISH). Five copies of the chromosomes involved in the translocatio n were isolated by microdissection and amplified by means of degenerat e oligonucleotide primed-polymerase chain reaction (DOP-PCR), Reverse chromosome painting with the biotin-labeled PCR product showed that pa rt of the q-arm of chromosome 18 had no signal. The deletion was chara cterized further by FISH with band-specific probes and it was conclude d that the rearrangement was unbalanced: 46,XY,t(14;18) pter-->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 report ed patients with an interstitial deletion of band 18q12. (C) 1998 Wile y-Liss, Inc.