Literature DB >> 6698562

Premature centromere splitting in a presumptive mild form of Roberts syndrome.

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

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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Year:  1984        PMID： 6698562     DOI： 10.1007/bf00275195

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Roberts's syndrome. II. Aberrant Y-chromosome behavior.

Authors:  E Louie; J German
Journal:  Clin Genet       Date:  1981-01       Impact factor: 4.438

2.  Roberts'--SC phocomelia syndrome with cytogenetic findings.

Authors:  P Leonard; J Rendle-Short; L Skardoon
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  The Roberts' syndrome.

Authors:  C Waldenmaier; P Aldenhoff; T Klemm
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

4.  The Roberts syndrome.

Authors:  E O da Silva; L H Bezerra
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Sequence of centromere separation of mitotic chromosomes in Chinese hamster.

Authors:  B K Vig; H G Miltenburger
Journal:  Chromosoma       Date:  1976-03-31       Impact factor: 4.316

6.  Sequence of centromere separation: analysis of mitotic chromosomes in man.

Authors:  B K Vig
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

7.  Cytogenetic findings in Roberts-SC phocomelia syndrome(s).

Authors:  D Tomkins; A Hunter; M Roberts
Journal:  Am J Med Genet       Date:  1979

8.  Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories.

Authors:  J de Grouchy
Journal:  Prog Clin Biol Res       Date:  1982

Review 9.  Genetically determined chromosome instability syndromes.

Authors:  T M Schroeder
Journal:  Cytogenet Cell Genet       Date:  1982

10.  Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.

Authors:  J German
Journal:  Clin Genet       Date:  1979-12       Impact factor: 4.438
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  10 in total

1.  Mitotic disturbance associated with mosaic aneuploidies.

Authors:  K Miller; W Müller; L Winkler; M R Hadam; J H Ehrich; S D Flatz
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

2.  The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.

Authors:  S M Huson; C S Rodgers; C M Hall; R M Winter
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

3.  Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.

Authors:  E W Jabs; C M Tuck-Muller; R Cusano; J B Rattner
Journal:  Chromosoma       Date:  1991-05       Impact factor: 4.316

4.  Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly.

Authors:  K Madan; D Lindhout; A Palan
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

5.  Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature.

Authors:  Jing Zhou; Xiaonan Yang; Xiaolei Jin; Zhenhua Jia; Haibin Lu; Zuoliang Qi
Journal:  Exp Ther Med       Date:  2017-12-05       Impact factor: 2.447

6.  Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.

Authors:  N E Krassikoff; J M Cowan; D M Parry; U Francke
Journal:  Am J Hum Genet       Date:  1986-11       Impact factor: 11.025

7.  Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD).

Authors:  P H Fitzgerald; S A Archer; C M Morris
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

8.  Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.

Authors:  Carla Bastos da Costa Almeida; Amanda Thum Welter; Gabriel Dotta Abech; Gabriela Rangel Brandão; José Antônio Monteiro Flores; Birgitt Schüle; Uta Francke; Marilu Fiegenbaum; Paulo Ricardo Gazzola Zen; Rafael Fabiano Machado Rosa
Journal:  J Pediatr Genet       Date:  2019-09-03

9.  Centromere splitting in bladder cancer.

Authors:  G Berrozpe; M R Caballin; R Miró; A Gelabert; J Egozcue
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

10.  Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin.

Authors:  Gabriela Whelan; Emanuel Kreidl; Gordana Wutz; Alexander Egner; Jan-Michael Peters; Gregor Eichele
Journal:  EMBO J       Date:  2011-11-18       Impact factor: 11.598
  10 in total

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