Premature centromere splitting in a presumptive mild form of Roberts syndrome

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

Research output: Contribution to journalArticle

25 Citations (Scopus)

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 languageEnglish
Pages (from-to)96-99
Number of pages4
JournalHuman Genetics
Volume66
Issue number1
DOIs
Publication statusPublished - Mar 1984

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Centromere
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 16
Chromatids
Metaphase
Cytogenetics
Siblings
Lymphocytes
Roberts Syndrome

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 journalArticle

Petrinelli, P. ; Antonelli, A. ; Marcucci, L. ; Dallapiccola, B. / Premature centromere splitting in a presumptive mild form of Roberts syndrome. In: Human Genetics. 1984 ; Vol. 66, No. 1. pp. 96-99.
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