Premature centromere splitting in a presumptive mild form of Roberts syndrome

P. Petrinelli; A. Antonelli; L. Marcucci; B. Dallapiccola

doi:10.1007/BF00275195

Premature centromere splitting in a presumptive mild form of Roberts syndrome

P. Petrinelli, A. Antonelli, L. Marcucci, B. Dallapiccola

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1007/BF00275195
Publication status	Published - Mar 1984

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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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.",

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