The origin of trisomy 22: Evidence for acrocentric chromosome-specific patterns of nondisjunction

American Journal of Medical Genetics, Part A

Volumn 143, Issue 19, 2007, Pages 2249-2255

  Hall, Heather E ^a   Surti, Urvashi ^b,c   Hoffner, Lori ^b   Shirley, Sofia ^a   Feingold, Eleanor ^d   Hassold, Terry ^a  

^a WASHINGTON STATE UNIVERSITY   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Maternal age; Nondisjunction; Recombination; Trisomy

Indexed keywords

ACROCENTRIC CHROMOSOME; ARTICLE; CHROMOSOME 22; GENETIC RECOMBINATION; HUMAN; MAJOR CLINICAL STUDY; MATERNAL AGE; MEIOSIS; NONDISJUNCTION; OOCYTE DEVELOPMENT; PRIORITY JOURNAL; TRISOMY; TRISOMY 22;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; FETUS; HUMANS; MEIOSIS; NONDISJUNCTION, GENETIC; RECOMBINATION, GENETIC; TRISOMY;

EID: 34848888061     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31918     Document Type: Article

References (21)

1. Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brondum-Nielsen K, Morton N, Mikkelsen M. 1998. Non-disjunclion of chromosome 18. Hum Mol Genet 7:661-669.
2. Fisher JM, Harvey JF, Lindenbaum RH, Boyd PA, Jacobs PA. 1993. Molecular studies of trisomy 18. Am J Hum Genet 52:1139-1144.
3. Fisher JM, Harvey JF, Morton NE, Jacobs PA. 1995. Trisomy 18: Studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction. Am J Hum Genet 56:669-675.
4. Hall H, Hunt P, Hassold T. 2006. Meiosis and sex chromosome aneuploidy: How meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors. Curr Opin Genet Dev 16: 323-329.
5. Hassold T, Hunt P. 2001. To err (meiotically) is human: The genesis of human aneuploidy. Nat Rev Genet 2:280-291.
6. Hassold TJ, Jacobs PA. 1984. Trisomy in man. Annu Rev Genet 18:69-97.
7. Hassold T, Sherman S. 2000. Down syndrome: Genetic recombination and the origin of the extra chromosome 21. Clin Genet 57:95-100.
8. Hassold T, Merrill M, Adkins K, Freeman S, Sherman S. 1995. Recombination and maternal age-dependent nondisjunction: Molecular studies of trisomy 16. Am J Hum Genet 57:867-874.
9. Jacobs P, Hassold T, Harvey J, May K. 1989. The origin of sex chromosome aneuploidy. Prog Clin Biol Res 311:135-151.
10. James RS, Jacobs PA. 1996. Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum Genet 97:283-286.
11. Karadinu G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Anneren G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann JM, Hertz JM, Houge G, Kuklik M, Macek M, Lacombe D, Miller K, Moncla A, Lopez Pajares I, Patsalis PC, Petersen MB, et al. 1998. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 6:432-438.
12. Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D, Saker D, Shen J, Taft L, Mikkelsen M, Petersen MB, Hassold T, Sherman SL. 1997. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet 6:1391-1399.
13. Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL. 2005. Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 76:91-99.
14. Morton NE, Wu D, Jacobs PA. 1988. Origin of sex chromosome aneuploidy. Ann Hum Genet 52:85-92.
15. Risch N, Stein Z, Kline J, Warburton D. 1986. The relationship between maternal age and chromosome size in autosomal trisomy. Am J Hum Genet 39:68-78.
16. Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. 1998. Maternal meiosis I non-disjunction of chromosome 15: Dependence of the maternal age effect on level of recombination. Hum Mol Genet 7:1011-1019.
17. Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, et al. 1991. Trisomy 21: Association between reduced recombination and nondisjunction. Am J Hum Genet 49:608-620.
18. Thomas NS, Hassold TJ. 2003. Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update 9:309-317.
19. Thomas NS, Ennis S, Sharp AJ, Durkie M, Hassold TJ, Collins AR, Jacobs PA. 2001. Maternal sex chromosome non-disjunction: Evidence for X chromosome-specific risk factors. Hum Mol Genet 10:243-250.
20. Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T. 1994. Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns. Hum Genet 94:411-417.
21. Zaragoza MV, Millie E, Redline RW, Hassold TJ. 1998. Studies of non-disjunction in trisomies 2, 7, 15,and 22: Does the parental origin of trisomy influence placental morphology? J Med Genet 35:924-931.