Studies of Mitotic and Centromeric Abnormalities in Roberts Syndrome: Implications for a Defect in the Mitotic Mechanism

Overview

Journal Chromosoma

Specialty Molecular Biology

Date 1991 May 1

PMID 2055135

Citations 15

Authors

E W Jabs

R Cusano

J B Rattner

Affiliations

Soon will be listed here.

Abstract

Roberts syndrome is an inherited human condition that is of particular interest because separation of centromeres and constitutive heterochromatin is observed in metaphase chromosomes. In this study we investigated the frequency of other cytological abnormalities in three Roberts syndrome patients. Our findings when taken with previous cytological reports emphasize that there are other features that are equally characteristic of Roberts syndrome: (1) aneuploidy with random chromosome loss and (2) micronuclei and/or nuclear lobulations of 8%-24% of interphase cells. We observed abnormal chromosome movement involving one or all the chromosomes during anaphase. Evidence is presented suggesting that aneuploidy, micronuclei and abnormal nuclear morphology are a direct result of lagging chromosomes. The cytological features documented for Roberts syndrome indicate that this is a human mitotic mutant.

Citing Articles

Roberts syndrome with tetraphocomelia: A case report and literature review.

Okpala B, Echendu S, Ikechebelu J, Eleje G, Joe-Ikechebelu N, Nwajiaku L SAGE Open Med Case Rep. 2022; 10:2050313X221094077.

PMID: 35495290 PMC: 9039428. DOI: 10.1177/2050313X221094077.

Biallelic mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.

Carvalhal S, Bader I, Rooimans M, Oostra A, Balk J, Feichtinger R Sci Adv. 2022; 8(3):eabk0114.

PMID: 35044816 PMC: 8769543. DOI: 10.1126/sciadv.abk0114.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and Mutations.

Colombo E, Mutlu-Albayrak H, Shafeghati Y, Balasar M, Piard J, Gentilini D Front Pediatr. 2019; 7:210.

PMID: 31192177 PMC: 6546804. DOI: 10.3389/fped.2019.00210.

A quantitative analysis of cohesin decay in mitotic fidelity.

Carvalhal S, Tavares A, Santos M, Mirkovic M, Oliveira R J Cell Biol. 2018; 217(10):3343-3353.

PMID: 30002073 PMC: 6168270. DOI: 10.1083/jcb.201801111.

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

Zhou J, Yang X, Jin X, Jia Z, Lu H, Qi Z Exp Ther Med. 2018; 15(2):1702-1711.

PMID: 29434756 PMC: 5776516. DOI: 10.3892/etm.2017.5592.

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