Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy

Reciprocal uniparental disomy in yeast.

In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...

Uniparental disomy and prenatal phenotype

RATIONALE Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES The prenatal phenotype of case 1 included sonographic markers such as enlarg...

Maternal Uniparental Disomy of Human Chromosome 7

Synovial Sarcoma of the Head and Neck: A Case of Childhood Soft Tissue Sarcoma

Although rare, synovial sarcoma is the most common malignant non-rhabdomyosarcomatous soft tissue sarcoma in children and adolescents. Synovial sarcoma typically involves the soft tissues of the extremities, especially near large joints, but it can occur anywhere in the body in locations far from joint spaces. Although this tumor typically affects adults in their fourth decade of life, nearly h...

Complex and segmental uniparental disomy updated.

OBJECTIVE To review all cases with segmental and/or complex uniparental disomy (UPD) and to discuss the impact of these cases on medical genetics. DESIGN Searching for published reports in PubMed and in the abstract books of the annual meetings of the American Society of Human Genetics and the European Society of Human Genetics up to March 2008. RESULTS In total, 26 cases with segmental UPD...