M. Guttenbach et al., AN INTERSTITIAL NUCLEOLUS ORGANIZER REGION IN THE LONG ARM OF HUMAN-CHROMOSOME-7 - CYTOGENETIC CHARACTERIZATION AND FAMILIAL SEGREGATION, Cytogenetics and cell genetics, 80(1-4), 1998, pp. 104-112
An unusual NOR-bearing chromosome 7 was detected in a phenotypically n
ormal, healthy 29-year-old male proband. Differential banding techniqu
es as well as in situ hybridization employing various DNA-probes were
performed in order to characterize the chromosome in detail. The nucle
olus organizer region was found to be located between bands 7q21.3 and
7q22.1. No further rearrangements were detected in this chromosome. A
nalysis of spontaneously occurring micronuclei revealed 9% of them to
contain a 7q fragment distal to (or including) the inserted NOR, sugge
sting that the inserted secondary constriction represents a potential
hot spot for chromosomal breakage and rearrangement. Segregation analy
sis of the variant chromosome 7 in 51 members of the probands' family
showed transmission in a Mendelian fashion. 27 individuals were found
to be heterozygous for the inserted chromosome. A three-year-old child
in the consanguineous marriage of two heterozygous carriers exhibited
the NOR-insertion in both of his chromosome 7 homologues. To our know
ledge, this is the first report on a homozygous carrier of a non-acroc
entric NOR-bearing chromosome.