Background Causative genetic variants have to date been identified for only a small proportion of familial colorectal cancer (CRC). While conditions such as Familial Adenomatous Polyposis (FAP) and Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) are caused by well defined genetic defects, the search for variants underlying the remainder of familial CRC is plagued by genetic he...

Recent cytogenetic analysis of a series of human renal oncocytomas revealed the presence of a recurring chromosomal translocation (5;11)(q35;q13) as sole anomaly in a subset of the tumors. The molecular characterization of this translocation was initiated using two primary t(5;11)-positive renal oncocytomas and a panel of somatic cell hybrids derived from one of these tumors, in conjunction wit...

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously rep...

A contiguous high-resolution map of 44 loci from a 35-Mb portion of the distal region of the long arm of human chromosome 5, q21-q35, was produced using radiation hybrid (RH) mapping in conjunction with a natural deletion mapping panel. The map includes 30 genes, four sequence-tagged site (STS) loci, and 10 DNA markers. Newly mapped markers fill two gap regions that were present in previous map...

Anaplastic large cell lymphoma (ALCL) is a subtype of nonHodgkin‘s lymphoma characterized by the CD30’ large neoplastic cells and sometimes carries a t(2;5)(p23;q35). Recently, we found a novel hyperphosphorylated 80-kD protein tyrosine kinase, p80, in ALCLs with t(2;5). Subsequent cDNA cloning showed p80 to be a fusion protein of two genes, the novel tyrosine kinase gene and the nucleophosmin ...

Chromosome investigation in six localized forms of tenosynovial giant cell tumors, also known as modular tenosynovitis, revealed an identical translocation between chromosomes 1 and 2, t(1;2)(p11;q35-36) in three tumors, a variant translocation t(1;5)(p11;q22) in a fourth case, and a t(2;16)(q33;q24) in a fifth case. One case showed a normal karyotype. Although morphologically rather uniform, t...

Although childhood T-cell acute lymphoblastic leukemia (T-ALL) is a high-risk disease the outcome can vary considerably. The varying outcomes suggest that unrecognized factors may contribute to disease progression. We report on a 2-year-old T-ALL patient presenting with a very short history of constipation and extreme hyperleukocytosis (WBC 882×10(9)/L). In her leukemic cells we detected the ve...