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2480 cases included
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How to cite this database:
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last update: 04. September 2025 |
Created by Dr.
Thomas Liehr (PhD) |
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link
helpful for diagnostics
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References
Collect all cases of constitutional human ring chromosomes in infertile and mentally retarded.
Thoughts on formation mechanisms of ring chromosomes see Refs {1, 144}.
RCs and tumor predisposition see Ref {591}.
Work of international consortium for human ring chromosomes see {1182}.
Ring chromosome as research tool for chromosome therapy see {1183-1187}.
Acc. to {1479} who studied 40 prenatal and 133 postnatal RC cases male to female ratio was 70:103.
23/40 fetuses (57.5%) were found with abnormal results in sonography (12/40 cases = 30%) and/ or other non-invasive tests.
48/133 postnatal cases (36.1%) had growth retardation; 15 (11.3%) had DD.
7/92 tested cases were familial.
RC-X: 43/173 (~25% - here not distinguished lareg and small RCs)
RC-13: 17/173 (~10%)
RC from an acrocentric: 44/133 (~25%)
The remainder RCs are mentioned as "RCs of unknown chromosomal origin" -
suggesting authors report on sSMCs?
This page is organized like the 'sister-page' on small supernumerary marker chromosomes (sSMC)
- the structure is explained here.
Also take care that the nomenclature here may not always be done exactly acc. to ISCN !!
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