Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
AcroM fluorescent in situ hybridization analyses of marker chromosomes.
Hum. Genet. 109, 152-158 (2001)
The presence of a de novo supernumerary marker chromosome (SMC) poses problems in genetic counseling. The consequences of the additional chromosomal material may range from harmless to detrimental. As the composition of a SMC cannot be deciphered by traditional banding analysis, sophisticated methods are needed for their rapid and detailed analyses. A new strategy is presented, which allows the elucidation of the composition of SMCs in one or two hybridizations. One hybridization, termed AcroM-FISH, involves a newly generated probe mix, which consists of painting probes for all acrocentric chromosomes, centromere probes for chromosomes 13/21, 14/22, 15, and a probe specific for rDNA, each labeled with a specific combination of fluorochromes. This probe mix is sufficient to characterize approximately 80% of all SMCs. For the other 20% of SMCs, chromosomes can be analyzed in a second hybridization by multicolor karyotyping, for example, multiplex FISH (M-FISH), to check for the presence of euchromatin of other chromosomes. The potential of AcroM-FISH was tested in various applications.
Impact Factor
Scopus SNIP
Altmetric
0.000
0.000
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Sprache
englisch
Veröffentlichungsjahr
2001
HGF-Berichtsjahr
0
ISSN (print) / ISBN
0340-6717
e-ISSN
1432-1203
Zeitschrift
Human Genetics
Quellenangaben
Band: 109,
Heft: 2,
Seiten: 152-158
Verlag
Springer
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)
PubMed ID
11511920
Erfassungsdatum
2001-12-31