Abstract
Cytogenetic investigations performed on lymphocytes from a 29-year-old woman with no severe anomalies, allowed us to recognize a mild form of Roberts syndrome. The proposita's metaphases showed a consistent centromere splitting, especially affecting chromosomes 16, 19, 21, and 22. This centromere separation sequence seems to be unique to Roberts syndrome cells. The experiments also showed that no diffusible factor, involved in the mechanism of sister chromatid pairing-disjunction, exists.
| Original language | English |
|---|---|
| Pages (from-to) | 96-99 |
| Number of pages | 4 |
| Journal | Human Genetics |
| Volume | 66 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Mar 1984 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Premature centromere splitting in a presumptive mild form of Roberts syndrome. / Petrinelli, P.; Antonelli, A.; Marcucci, L.; Dallapiccola, B.
In: Human Genetics, Vol. 66, No. 1, 03.1984, p. 96-99.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Premature centromere splitting in a presumptive mild form of Roberts syndrome
AU - Petrinelli, P.
AU - Antonelli, A.
AU - Marcucci, L.
AU - Dallapiccola, B.
PY - 1984/3
Y1 - 1984/3
N2 - Cytogenetic investigations performed on lymphocytes from a 29-year-old woman with no severe anomalies, allowed us to recognize a mild form of Roberts syndrome. The proposita's metaphases showed a consistent centromere splitting, especially affecting chromosomes 16, 19, 21, and 22. This centromere separation sequence seems to be unique to Roberts syndrome cells. The experiments also showed that no diffusible factor, involved in the mechanism of sister chromatid pairing-disjunction, exists.
AB - Cytogenetic investigations performed on lymphocytes from a 29-year-old woman with no severe anomalies, allowed us to recognize a mild form of Roberts syndrome. The proposita's metaphases showed a consistent centromere splitting, especially affecting chromosomes 16, 19, 21, and 22. This centromere separation sequence seems to be unique to Roberts syndrome cells. The experiments also showed that no diffusible factor, involved in the mechanism of sister chromatid pairing-disjunction, exists.
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UR - http://www.scopus.com/inward/citedby.url?scp=0021323448&partnerID=8YFLogxK
U2 - 10.1007/BF00275195
DO - 10.1007/BF00275195
M3 - Article
VL - 66
SP - 96
EP - 99
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 1
ER -