Premature centromere splitting in a presumptive mild form of Roberts syndrome

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.

?Premature anaphase? in a couple with recurrent miscarriages

“…PCD-X, PCD 21, PCD18, have been observed in a woman who had three conceptuses outof-phase separation with aneuploidy of the offspring has been identified by Mdhes (1978) and by Bajn6czky and Mdhes (1988) suggesting that this phenomenon is a sign of chromosomal instability (Btihler et al 1987). PCD with separation mainly of the centromeric region ("early puffing") has been reported in patients with Roberts syndrome and is known as the RS effect (German 1979;Petrinelli et al 1984;R6mke 1987).…”

Heterogeneity in Roberts syndrome

“…These observations led to the suggestion that both cellular defects may be manifestations of a common defect in the Roberts syndrome (RBS) gene [Allingham-Hawkins and Tomkins, 1991. A wide range of clinical presentations has been reported in RS. While many patients die in the perinatal period as a result of multiple, severe abnormalities, patients with mild clinical manifestations have been described [Herrmann and Opitz, 1977;Petrinelli et al, 1984;Stanley et al, 19881. This clinical variability originally led to the distinction between more mildly affected "SC-phocomelia" patients and the more severely compromised RS patients [Herrmann et al, 19691.…”

Prenatal Diagnosis of Roberts Syndrome: Two New Cases

“…This rare autosomal recessive condition is marked by variability of phenotypic expression, inducing nosological discussions (Herrmann et al, 1969;Petrinelli et al, 1984;Parry et al, 1986).…”