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Case Reports
. 1998 Aug;6(5):411-4.
doi: 10.1023/a:1009237608514.

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

L Doneda  1 , P Gandolfi, G Nocera, L Larizza
Affiliations
Case Reports

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

L Doneda et al. Chromosome Res. 1998 Aug.

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.

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