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OBJECTIVE To review the direct DNA testing for Huntington's disease (HD) in Germany, Switzerland, and Austria from 1993 to 1997, and to analyze the population with regard to age structure, gender, and family history. METHODS Twelve laboratories (nine in Germany, two in Austria, and one in Switzerland) recorded data pertaining to repeat number, gender, age(More)
The pelota gene of Drosophila melanogaster encodes a protein that was found to be included in cell cycle regulation. Mutations were found to result in spermatogenic arrest, female sterility and disturbances in the patterning of the eye. Here we describe the cloning of the human pelota cDNA (PELO) that encodes a 385-amino-acid protein. Southern blot and(More)
We report on a 3-year-old boy with a moderate to severe mental retardation, autistic behavior patterns, and myoclonic epilepsy of early childhood. The cytogenetic analysis of blood lymphocytes revealed a deletion of chromosome 20pter --> p12.2 occurring as mosaicism in 8% of the analyzed metaphases: 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. The deletion(More)
BACKGROUND The suspected diagnosis of Williams-Beuren syndrome (WBS), which is a retardation syndrome with great clinical variability, was cause for comparison of molecular genetic, molecular cytogenetic analysis to clinical symptoms. The results of the genetical analysis of a microdeletion of the elastin gene region on chromosome 7 were compared to the(More)
Germ cell cyritestin is a membrane-anchored protein belonging to the ADAM family of proteins. Sequencing of eight human cyritestin cDNA clones revealed that they are identical at their 5' and 3' ends but differ from each other in the length of an internal deletion, suggesting that the human cyritestin mRNA is alternatively spliced. Internal deletions that(More)
We report on a case of prenatally diagnosed true trisomy 20 mosaicism in amniocytes. Cytogenetic analysis was performed postnatally on lymphocytes and extra-embryonic tissues. For analysing uroepithelial cells we established a new cell nuclei preparation protocol for FISH (Fluorescence In Situ Hybridization). Trisomy 20 cells could not be confirmed after(More)
Chromosomal analysis of amniotic cell culture revealed an extra euchromatic band in the variable heterochromatin region 9q12. Cytogenetic analysis of the fetus was compared with the chromosomes of the parents. Using different cytogenetic banding techniques and fluorescence in situ hybridization with specific DNA probes, the structural rearrangements(More)
We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the ring chromosome was duplicated in 20% of the analyzed metaphases with(More)
We report on a fetus with ring chromosome 18 and monosomy 18 mosaicism [mos 45,XX,-18/46,XX,r(18)] detected in cultured amniotic fluid cells at 15 weeks' gestation. Chromosome analysis of fetal blood, cultured chorionic villi and fetal fibroblasts confirmed the aberrant karyotype. The aberrant chromosome complement could not be detected in a short-term(More)