Gene: [06q15/RNRS] nucleolus organizer regions NOR-S (NOR suppl in 6q); [NORS ]
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COM |
This locus is not a canonical one, and must be classified as a genome variant, for it is currently determined only in one family by standard cytogenetical methods and is not confirmed by the molecular ones. In the nuclear family of 5 persons, the proband (a premature infant with the developmental anomalies), one of his healthy brothers, and the father had the insertion of NOR material into the segment 6q14-15. This follows from the presence of the atypical secondary constriction which is similar to the NOR chromosome satellite strand, in 100% methaphases, from the positive result of silvering and from the high frequency of associations of the segment with D and G chromosomes." |
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REF |
LOC,CYG "Prieto F &: Hum Genet, 81, 289-290, 1989 |
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KEY |
trl |
|
CLA |
unknown, basic |
|
LOC |
06 q15 |
|
MIM |
? |
|
SYN |
NORS |
