Information is presented which has been obtained from an exhaustive examination of 44 probands with a supernumerary marker chromosome (mar) and their families. The data include the derivation of the mar, frequency in various populations, inheritance and possible effect on fertility, congenital abnormality, and mental ability. The practical problems in assessing the risk of abnormality in a foetus discovered during prenatal diagnosis to be carrying a mar, are discussed.
Summary. The distribution of the points of breakage and reunion of a series of 58 Robertsonian translocations, 53 reciprocal translocations, and 10 inversions is described. An excess of 13/14 and 14/21 rearrangements was found among the Robertsonian translocations, this excess being independent of the method of ascertainment of the proband. The distribution of break points between chromosome arms in the reciprocal translocations, with the possible exception ofthe long arms of chromosome 11, was no different from that expected on the basis of their relative lengths. However, within arms there appeared to be an excess of breaks in the terminal regions, an excess of terminal/centromeric translocations where ascertainment was through a balanced carrier and a possible excess ofterminal/median translocations where ascertainment was through an unbalanced carrier. Nine inversions were analysed and three of these involved identical break points on chromosome 8.Possible reasons for the apparent non-randomness of points of breakage and exchange are discussed and it is concluded that the techniques ofpreparation, methods of observations, and methods of ascertainment all affect the distribution of observed points of breakage and exchange and must therefore be taken into cognizance in any study of chromosome rearrangements in man.
We describe five individuals who have constitutional deletions of the short arm of one chromosome 11, including all or part of the band p13. All of these individuals suffer from aniridia; two have had a Wilms tumor removed. We have established lymphoblastoid cell lines from these and in three cases constructed somatic cell hybrids containing the deleted chromosome 11. Analysis of DNA from the cell lines and hybrids with a cloned cDNA probe has shown that the catalase gene is deleted in four of five patients. The catalase locus must be proximal to the Wilms and aniridia-related loci. We have not detected a deletion of the beta-globin or calcitonin genes in any of these individuals; we conclude these genes are likely to be outside the region 11p12-11p15.4. In addition, we have used monoclonal antibodies in fluorescence-activated cell sorting analysis to measure expression in the hybrids of two cell surface markers encoded by genes that map to the short arm of chromosome 11. The genes for both of these are deleted in two individuals but are present in the individual with the smallest deletion.
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