Nouvelles données en génétique chromosomique

Eichler EE. Masquerading repeats : paralogous pitfalls of the human genome. Genome Res 1998 ; 8 : 758-62.

Ji Y, Eichler EE, Schwartz S, Nicholls RD. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 2000 ; 10 : 597-610.

Lupski JR. Genomic disorders : structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998 ; 14 : 417-22.

Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002 ; 18 : 74-82.

Hassold T, Hunt P. To err (meiotically) is human : the genesis of human aneuploidy. Nat Rev Genet 2001 ; 2 : 280-91.

Schmickel RD. Contiguous gene syndromes : a component of recognizable syndromes. J Pediatr 1986 ; 109 : 231-41.

Emanuel BS, Shaikh TH. Segmental duplications : an expanding role in genomic instability and disease. Nat Rev Genet 2001 ; 2 : 791-800.

Bailey JA, Gu Z, Clark RA, et al. Recent segmental duplications in the human genome. Science 2002 ; 297 : 1003-7.

Horvath JE, Bailey JA, Locke DP, Eichler EE. Lessons from the human genome : transitions between euchromatin and heterochromatin. Hum Mol Genet 2001 ; 10 : 2215-23.

Samonte RV, Eichler EE. Segmental duplications and the evolution of the primate genome. Nat Rev Genet 2002 ; 3 : 65-72.

Bailey JA, Yavor AM, Viggiano L, et al. Human-specific duplication and mosaic transcripts : the recent paralogous structure of chromosome 22. Am J Hum Genet 2002 ; 70 : 83-100.

Giglio S, Broman KW, Matsumoto N, et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001 ; 68 : 874-83.

Edelmann L, Spiteri E, Koren K, et al. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet 2001 ; 68 : 1-13.

Giglio S, Calvari V, Gregato G, et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16 ; p23) translocation. Am J Hum Genet 2002 ; 71 : 276-85.

Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders : the genomic basis of disease. Hum Mol Genet 2004 ; 13 : R57-64.

Chakravarti A, Majumder PP, Slaugenhaupt SA, et al. Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. In : Hassold T, Epstein C, eds. Molecular and cytogenetic studies of non-disjunction. New York : Alan R. Liss, 1989 : 45-79.

Jacobs P, Dalton P, James R, et al. Turner syndrome : a cytogenetic and molecular study. Ann Hum Genet 1997 ; 61 : 471-83.

Hassold T, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45, X conceptuses. Hum Genet 1992 ; 89 : 647-52.

Lamb NE, Freeman SB, Savage-Austin A, et al. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 1996 ; 14 : 400-5.

Savage AR, Petersen MB, Pettay D, et al. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet 1998 ; 7 : 1221-7.

Warren AC, Chakravarti A, Wong C, et al. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down Syndrome. Science 1987 ; 237 : 652-4.

Hassold TJ, Sherman SL, Pettay D, et al. XY chromosome nondisjunction in man in associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet 1991 ; 49 : 253-60.

Robinson WP, Bernasconi F, Mutirangura A, et al. Nondisjunction of chromosome 15 : origin and recombination. Am J Hum Genet 1993 ; 53 : 740-51.

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Angell R. First-meiotic-division nondisjunction in human oocytes. Am J Hum Genet 1997 ; 61 : 23-32.

Dailey T, Dale B, Cohen J, Munne S. Association between nondisjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet 1996 ; 59 : 176-84.

Anahory T, Andreo B, Regnier-Vigouroux G, et al. Sequential multiple probe fluorescence in-situ hybridization analysis of human oocytes and polar bodies by combining centromeric labelling and whole chromosome painting. Mol Hum Reprod 2003 ; 9 : 577-85.

Penrose L. The relative effects of paternal and maternal age in mongolism. J Genet 1993 ; 27 : 219-24.

Hassold T, Chiu D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 1985 ; 70 : 11-7.

Risch N, Stein Z, Kline J, Warburton D. The relationship between maternal age and chromosome size in autosomal trisomy. Am J Hum Genet 1986 ; 39 : 68-78.

Lamb NE, Yu K, Shaffer J, et al. Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 2005 ; 76 : 91-9.

James SJ, Pogribna M, Pogribny IP, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999 ; 70 : 495-501.

Hobbs CA, Sherman SL, Yi P, et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 2000 ; 67 : 623-30.

Chadefaux-Vekemans B, Coudé M, Muller F, et al. Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome. Pediatr Res 2002 ; 51 : 766-7.

Romana SP, Gosset P, Elghezal H, et al. Apport de la cytogénétique moléculaire au diagnostic pré et postnatal des anomalies chromosomiques. J Gynecol Obstet Biol Reprod (Paris) 2001 ; 30 (suppl 1) : 75-9.

Sanlaville D, Lapierre JM, Turleau C, et al. Molecular karyotyping in human constitutional cytogenetics. Eur J Med Genet 2005 (sous presse).

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