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Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

✍ Scribed by Engelen, John J.M.; Loots, Wil J.G.; Albrechts, Jozefa C.M.; Plomp, Astrid S.; van der Meer, Syb B.; Vles, Johannes S.H.; Hamers, Guus J.H.; Geraedts, Joep P.M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 37 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980203)75:4<409::aid-ajmg11>3.0.co;2-s

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✦ Synopsis

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.

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