We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent gro...

Barbara Lewis,* Sarah Fulton, Elizabeth Short, Suchitra Nelson, Giuseppina Lombardi, Daniel Rosenbaum, Carolyn Kercsmar, Jill Baley, and Lynn T. Singer Department of Pediatrics, School of Medicine, Case Western Reserve University, Cleveland, Ohio Department of Psychology, College of Arts and Sciences, Case Western Reserve University, Cleveland, Ohio Department of Community Dentistry, School of ...

We report on a father and daughter with a partial 9p duplication, dup(9)(p22p24). Their phenotype, albeit mild, is characteristic of partial trisomy 9p. Fluorescence in situ hybridisation (FISH) was used to characterise further and confirm the G banding finding. This is the first reported instance of trisomy 9p occurring in two successive generations. The duplicated segment in these two patient...

1 Division of Hematology and Oncology, Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA 2 Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA 3 Pathology and Laboratory Medicine Service, Central Arkansas Veterans Healthcare System, Little Rock, Arkansas, USA 4 Division of Hematology and...

Here, we report on a rare case of a giant invasive sacral schwannoma. The patient was a 58-year-old woman who had a 6-year history of non-specific buttock pain. Histological investigation confirmed the diagnosis of cellular schwannoma. The following numerical aberration was detected using the GTG-banding method for karyotypes: 47,XX,-14,+18,+22. Cytogenetic studies of schwannomas have indicated...