Recombinant DNA technology has contributed greatly to the precision of chromo­ some analysis in man. Breakpoints of chromosome deletions and rearrange­ ments may be defined on a chromosome map whose landmarks are the loci of DNA sequences rather than Giemsa bands. Flow cytogenetics allows the extent of chromosome duplications and deletions to be measured more precisely than has hitherto been po...

The Y chromosome is unusual in being constitutively haploid and escaping recombination for most of its length. This has led to a correspondingly unusual genomic landscape, rich in segmental duplications, which provide a rich environment for the generation of copy number variation (CNV). Interest in the chromosome comes from diverse fields, including infertility research, population genetics, fo...

Ataxia telangiectasia patients, with constitutional bi-allelic ATM mutations, have a marked risk of lymphoid tumors and ATM mutation carriers have a smaller risk of cancer. Sporadic ATM mutations occur in 10-20% of chronic lymphocytic leukemia and are often associated with chromosome 11q deletions which cause loss of an ATM allele. The role of constitutional ATM mutations in the pathogenesis of...

BACKGROUND Deletions in chromosome 3 occur frequently in uterine cervical carcinoma (CA-CX). The common consensus regions deleted during CA-CX development are not well defined, and have not been correlated with tumour progression. AIMS To define specific regions of chromosome 3 deleted during development of CA-CX and to correlate these with clinicopathological data. METHODS Deletion mapping...

Using the methods of restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) analyses, we have examined 33 cases of human gliomas with various malignant grades to detect the deletions of putative tumor suppressor gene loci, chromosome 10, 13q(retinoblastoma gene, Rb), 17p, and p53 mutation. We observed loss of heterozygosity (LOH) at loci on chromosome...

The human steroid sulfatase gene (STS) is located on the distal X chromosome short arm close to the pseudoautosomal region but in a segment of DNA that is unique to the X chromosome. In contrast to most X chromosome-encoded genes, STS expression is not extinguished during the process of X chromosome inactivation. Deficiency of STS (steryl-sulfatase; steryl-sulfate sulfohydrolase, EC 3.1.6.2) ac...

Deletions of the long arm of chromosome 20 are associated with several myeloid malignancies and, in particular, with myeloproliferative disorders and myelodysplastic syndromes (MDS). Together with deletions of chromosome 5q and chromosome 7q, chromosome 20q deletions have previously been thought to be restricted to myeloid cells in patients with MDS. We report here that deletion of chromosome 2...

An x-ray-dependent mutator on chromosome 3 of Drosophila melanogaster is described that specifically increases the recovery of deletions for chromosomal tip regions. Such deficiencies can be induced on any chromosome. More centromere proximal mutations, as assayed by the sex-linked recessive lethal test, are not increased over the wild-type control. As far as can be determined by genetic, cytol...

We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, hypertelorism, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay. Greig cephalopolysyndactyly (GCPS) can be caused by GLI3 deletions. In patients with large deletions which include additional genes...

Development of myelodysplasia (MDS) with subsequent progression to acute myeloid leukemia (AML) is an example of the multistep process of malignant transformation in which each step often relates to genetic abnormalities that can be directly seen as chromosomal aberrations. Therapy-related MDS and AML (t-MDS and t-AML) may serve as an ideal model for a study of the genetic evolution of MDS and ...