| Autor: |
J J, Engelen, W J, Loots, J C, Albrechts, A S, Plomp, S B, van der Meer, J S, Vles, G J, Hamers, J P, Geraedts |
| Rok vydání: |
1998 |
| Předmět: |
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| Zdroj: |
American journal of medical genetics. 75(4) |
| ISSN: |
0148-7299 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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