A rare variant of chromosome 5, detected prenatally, consisted of a large pericentromeric block of heterochromatin that was C and G-11 positive. It was also present in several family members, all of whom were phenotypically normal (Fig. 10.1) (Fineman et al., Am J Med Genet 32:498–499, 1989). In a more recent report of a three-generation family (Doneda et al., Chromosome Res 6:411–414, 1998), FISH studies showed a similar variant that hybridized with satellite III sequences but not with beta satellite sequences of chromosome 9. Earlier studies (Buhler et al., Humangenetik 26:329–333, 1975) had shown G-11 staining to correlate to the locations of satellite III on several chromosomes, especially on chromosome 9.
KeywordsRare Variant Interstitial Deletion Band 5p13 Alpha Satellite Satellite Sequence
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