Articles on ethical issues in genetics are preceded by an asterisk.

Boue, A. 1985. Cytogenetics of pregnancy wastage. Advances in Human Genetics 14:1–58.

A report on a study showing that many human spontaneously aborted fetuses contain chromosome mutations.

Brewer, C., S. Holloway, P. Zawalnyski, et al. 1998. A chromosomal deletion map of human malformations. American Journal of Human Genetics 63:1153–1159.

A report on a study of human malformations related to specific chromosome deletions.

Cohen, J. 2002. Sorting out chromosome errors. Science 296:2164–2166.

An interesting discussion of why humans have such a high rate of aneuploidy.

R5

Conrad, D. F., D. Pinto, R. Redon, et al. 2010. Origins and functional impact of copy number variation in the human genome. Nature 464:704–712.

A research article that examines copy-number variation in human populations.

Cook, E. H., Jr., and S. W. Scherer. 2008. Copy-number variations associated with neuropsychiatric conditions. Nature 455:919–923.

A current review of copy-number variations and their relation to neurological and psychiatric conditions.

D’Hont, A., F. Denoeud, and J.-M. Aury, et al. 2012. The banana (Musa acuminata) genome and the evolution of monocotyledonous plants. Nature 488:213–217.

Report of a draft genome sequence of the banana.

Dubcovsky, J., and J. Dvorak. 2007. Genome plasticity a key factor in the success of polyploidy wheat under domestication. Science 316:1862–1866.

A research article that reviews the development of polyploid wheat and molecular evidence for genetic changes that led to domestication.

Durkin, S. G., and T. W. Glover. 2007. Chromosome fragile sites. Annual Review of Genetics 41:169–192.

A good review of chromosome fragile sites.

Epstein, C. J. 1988. Mechanisms of the effects of aneuploidy in mammals. Annual Review of Genetics 22:51–75.

A review of how aneuploidy produces phenotypic effects in mammals.

Feldman, M., and E. R. Sears. 1981. The wild resources of wheat. Scientific American 244(1): 98.

An account of how polyploidy has led to the evolution of modern wheat.

Gardner, R. J. M., and G. R. Sunderland. 2003. Chromosome Abnormalities and Genetic Counseling, 3d ed. Oxford: Oxford University Press.

A guide to chromosome abnormalities for genetic counselors.

Griffiths, S., R. Sharp, T. N. Foote, et al. 2006. Molecular characterization of Ph1 as a major chromosome pairing locus in polyploid wheat. Nature 439:749–752.

A research report on the molecular characterization of a single locus in wheat that prevents the pairing of related chromosomes from different genomes in meiosis.

Hall, J. C. 1988. Review and hypothesis: somatic mosaicism—observations related to clinical genetics. American Journal of Human Genetics 43:355–363.

A review of the significance of mosaicism in human genetics.

Heslop-Harrison, J. S., and T. Schwarzacher. 2007. Domestication, genomics, and the future for banana. Annals of Botany 100:1073–1084.

A review article on the biology and genetics of bananas.

Hieter, P., and T. Griffiths. 1999. Polyploidy: more is more or less. Science 285:210–211.

A discussion of research that shows that there is some unbalanced gene expression in polyploid cells.

Lupski, J. R. 2006. Genome structural variation and sporadic disease traits. Nature Genetics 38:974–976.

A short review of recent evidence to suggest that many copy-number variations are associated with disease.

Pennisi, E. 2008. 17q21.31: not your average genomic address. Science 322:842–845.

An interesting journalistic article on the effects of deletions on chromosome 17.

Rowley, J. D. 1998. The critical role of chromosome translocations in human leukemias. Annual Review of Genetics 32:495–519.

A review of molecular analyses of chromosome translocations in leukemias.

Ryder, O. A., L. G. Chemnick, A. T. Bowling, and K. Benirschke. 1985. Male mule foal qualifies as the offspring of a female mule and jack donkey. Journal of Heredity 76:379–381.

A report on a study of a male foal (Blue Moon) born to a mule, which was discussed in end-of-chapter problem 35.

Sánchez-García, I. 1997. Consequences of chromosome abnormalities in tumor development. Annual Review of Genetics 31:429–453.

Reviews the nature of fusion proteins produced by chromosome translocations that play a role in tumor development.

Sharp, A. J., S. Hansen, R. R. Selzer, et al. 2006. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nature Genetics 38:1038–1042.

A report of the discovery of submicroscopic deletions arising from segmental duplications.

Storchová, Z., A. Breneman, J. Cande, et al. 2006. Genome-wide genetic analysis of polyploidy in yeast. Nature 443:541–547.

A report of an experimental study of polyploidy in yeast, in which the authors identified genes that are lethal when present in multiple copies.

Torres, E. M., B. R. Williams, and A. Amon. 2008. Aneuploidy: cells losing their balance. Genetics 179:737–746.

A good historical and up-to-date review of studies of aneuploidy, especially theories about how it produces phenotypic effects.

Turner, D. J., M. Miretti, D. Rajan, et al. 2008. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nature Genetics 40:90–95.

Reports that nonallelic homologous recombination between segmental duplications leads to chromosome rearrangements.