Sigrid Sahlén

TL;DR: The result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype, and demonstrates the general usefulness of the array-CGH methodology for rapid and comprehensive detection of small heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.

TL;DR: Comparative genomic hybridization was used to analyse three hES cell lines derived in the laboratory and cultured continuously for 30-42 weeks, comprising 35-39 cell passages, and an aberrant X chromosome was detected at passage 61.

TL;DR: A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms, and Dysmorphic features were present in all patients with detected subtelomersic rearrangement.

TL;DR: Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied, making it possible to determine the chromosomal origin of the ring chromosomes in detail, and thus to compare the phenotypes of similar cases.

TL;DR: The results demonstrate the usefulness of SKY and interphase FISH for the identification of novel chromosome aberrations and cytogenetic abnormalities that provide prognostically important information in childhood ALL.