PMID- 8522323 OWN - NLM STAT- MEDLINE DCOM- 19960122 LR - 20190722 IS - 0340-6717 (Print) IS - 0340-6717 (Linking) VI - 96 IP - 6 DP - 1995 Dec TI - Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. PG - 661-7 AB - A straightforward and extremely efficient reverse chromosome painting technique is described which allows the rapid and unequivocal identification of any cytogenetically unclassifiable chromosome rearrangement. This procedure is used to determine the origin of unknown marker chromosomes found at prenatal diagnosis. After microdissection of the marker chromosome and amplification of the dissected fragment by a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), fluorescence in situ hybridization (FISH) to aberrant and normal metaphase chromosomes with the marker-derived probe pool is performed. With this strategy, marker chromosomes present in amniotic fluid samples were successfully identified in three cases. The origin of the supernumerary markers was ascertained as deriving from 3p(p12-cen), 18p(pter-cen) and 9p(p12-cen), respectively. Since a specific FISH signal on chromosomes can be obtained within 2 working days using a probe generated without any pretreatment from one chromosomal fragment only and without additional image processing devices, this technique is considered to be highly suitable for routine application in pre- and postnatal cytogenetic analysis. FAU - Muller-Navia, J AU - Muller-Navia J AD - Institut fur Anthropologie, Universitat Mainz, Germany. FAU - Nebel, A AU - Nebel A FAU - Schleiermacher, E AU - Schleiermacher E LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Hum Genet JT - Human genetics JID - 7613873 RN - 0 (DNA Primers) RN - 0 (Genetic Markers) SB - IM MH - Adult MH - *Amniocentesis MH - Amniotic Fluid/cytology MH - Base Sequence MH - Chromosome Banding MH - Chromosome Mapping MH - *Chromosomes, Human, Pair 18 MH - *Chromosomes, Human, Pair 3 MH - *Chromosomes, Human, Pair 9 MH - DNA Primers MH - Dissection/methods MH - Female MH - Genetic Markers MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Infant, Newborn MH - Karyotyping MH - Maternal Age MH - Molecular Sequence Data MH - Polymerase Chain Reaction/methods MH - Pregnancy, High-Risk EDAT- 1995/12/01 00:00 MHDA- 1995/12/01 00:01 CRDT- 1995/12/01 00:00 PHST- 1995/12/01 00:00 [pubmed] PHST- 1995/12/01 00:01 [medline] PHST- 1995/12/01 00:00 [entrez] AID - 10.1007/BF00210295 [doi] PST - ppublish SO - Hum Genet. 1995 Dec;96(6):661-7. doi: 10.1007/BF00210295.