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.

A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences

L. Doneda;L. Larizza
1998-08

Abstract

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.
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 MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
CHROMOSOME RESEARCH
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/184525
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