PubMed · 253921
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R Skinner. 1979. Genetic counselling.. https://pubmed.ncbi.nlm.nih.gov/253921/
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Myxoinflammatory fibroblastic sarcoma is a rare, recently described, and distinctive low-grade tumor of soft tissue. To our knowledge, there is only one previous report on the cytogenetics of this tumor. That case showed complex structural abnormalities, including a reciprocal translocation between chromosomes 1 and 10 [t(1;10)(p22;q24)] with loss of chromosomes 3 and 13. We describe here a second case showing supernumerary ring chromosomes, and a derivative chromosome 13, with additional material on the short arm. We conclude that the presence of chromosomal abnormalities supports the neoplastic nature of this tumor and aids in its diagnosis. Furthermore, we also postulate that the finding of ring chromosomes, which have been identified in other low-grade soft-tissue tumors, may have important prognostic implications regarding the aggressiveness of this neoplasm.
Chromosome analysis of oocytes, sperm and embryos has mainly relied on fluorescent in situ hybridisation (FISH) and karyotyping. FISH studies have been performed on sperm from fertile and infertile men as well as men carrying known chromosomal translocations. Molecular DNA analyses has aided in the identification and treatment of men with Y chromosome deletions. In oocytes FISH and karyotyping have identified non-disjunction of univalents and predivision of chromatids. Analysis of the chromosomes from human embryos has shown that a high proportion of embryos are mosaic or chaotic, in addition to embryos beings uniformly and abnormal. FISH and PCR have also been used clinically for preimplantation genetic diagnosis (PGD). For patients at risk of transmitting a specific genetic or chromosomal abnormality, 1-2 blastomeres are biopsied from embryos and specific genes or chromosomes analysed. Normal embryos are then transferred to the uterus.
Maternally derived duplication of the imprinted region of chromosome 15q11-q14 leads to a complex neurobehavioral phenotype that often includes autism, cognitive deficits, and seizures. Multiple repeat elements within the region mediate a variety of rearrangements, including interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chromosomes, as well as the deletions that cause Prader-Willi and Angelman syndromes. To elucidate the molecular structure of these duplication chromosomes, we designed a high-resolution array comparative genomic hybridization (array CGH) platform. The array contains 79 clones that form a gapped contig across the critical region on chromosome 15q11-q14 and 21 control clones from other autosomes and the sex chromosomes. We used this array to examine a set of 48 samples from patients with segmental aneuploidy of chromosome 15q. Using the array, we were able to determine accurately the dosage, which ranged from 1 to 6 copies, and also to detect atypical and asymmetric rearrangements. In addition, the increased resolution of the array allowed us to position two previously reported breakpoints within the contig. These results indicate that array CGH is a powerful technique to study rearrangements of proximal chromosome 15q.