Article
Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.
Annales de genetique - 1 Jan 1991
Maserati E, Pasquali F, Zuffardi O, Buttitta P, Cuoco C, Defant G, Gimelli G, Fraccaro M
Abstract excerpt
Five cases of Roberts syndrome (RS) in four nuclear families are reported and the wide range of phenotypic variation among them is described. This is in contrast with the remarkable uniformity of the cytogenetic findings. Indirect immunofluorescence with seric antibodies from patients with CREST, revealed that the centromeric structures are normal in RS thus confirming J. German's assumption that the chromatid...
Topics
- Abnormalities, Multiple
- Female
- Genetic Carrier Screening
- Genetic Variation
- Humans
- Karyotyping
- Male
- Pedigree
- Phenotype
- Syndrome