A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and beta-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.
A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences / L. Doneda, P. Gandolfi, G. Nocera, L. Larizza. - In: CHROMOSOME RESEARCH. - ISSN 0967-3849. - 6:5(1998 Aug), pp. 411-414.
|Titolo:||A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences|
DONEDA, LUIGIA (Primo)
LARIZZA, LIDIA (Ultimo)
|Parole Chiave:||Genetic Variation; Heterochromatin; Humans; DNA, Satellite; DNA Primers; Adult; In Situ Hybridization, Fluorescence; Chromosomes, Human, Pair 9; Cytogenetics; Child, Preschool; Chromosomes, Human, Pair 5|
|Settore Scientifico Disciplinare:||Settore MED/03 - Genetica Medica|
Settore BIO/13 - Biologia Applicata
|Data di pubblicazione:||ago-1998|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1023/A:1009237608514|
|Appare nelle tipologie:||01 - Articolo su periodico|