Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population

Human Genetics

Volumn 97, Issue 3, 1996, Pages 283-286

  James, Rowena Sarah ^a   Jacobs, Patricia Ann ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FEMALE; FETUS; HUMAN; HUMAN CELL; MALE; MITOSIS; MOLECULAR GENETICS; NEWBORN; PRIORITY JOURNAL; SPONTANEOUS ABORTION; TRISOMY 8;

ABORTION, SPONTANEOUS; ADULT; CHROMOSOMES; FEMALE; HUMANS; MALE; MIDDLE AGED; MOSAICISM; POLYMERASE CHAIN REACTION; PREGNANCY; TRISOMY;

EID: 0030049019     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02185754     Document Type: Article

References (25)

1. Antonarakis SE (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. N Engl J Med 324:872-876
2. Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC, Schinzel AA (1993) Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genet 3:146-149
3. Caspersson T, Lindsten J, Zech L, Buckton KE, Price WH (1972) Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet 9:1
4. Chandley AC, Hargreave TB, Fletcher JM, Soos M, Axworthy D, Price WH (1980) Trisomy 8: report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility. Hum Genet 55:31-38
5. Digilio MC, Giannotti A, Floridia G, Uccellatore F, Mingarelli R, Danesino C, Dallapiccola B, Zuffardi O (1994) Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. J Med Genet 31:238-241
6. Fisher JM, Harvey JF, Lindenbaum RH, Boyd PA, Jacobs PA (1993) Molecular studies of trisomy 18. Am J Hum Genet 52:1139-1144
7. 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 non-disjunction. Am J Hum Genet 56:669-675
8. Haas OA, Seyger M (1993) Hypothesis: meiotic origin of trisomic neoplasms. Cancer Genet Cytogenet 70:112-116
9. Hassold T (1982) Mosaic trisomies in human spontaneous abortions. Hum Genet 61:31-35
10. Hassold TJ, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18:69-97
11. Hassold TJ, Merrill M, Adkins K, Freeman S, Sherman S (1995) Recombination and maternal age-dependent non-disjunction: molecular studies of trisomy 16. Am J Hum Genet 67:867-874
12. Heim S, Mitelman F (1986) Numerical chromosome aberrations in human neoplasia. Cancer Genet Cytogenet 22:99-108
13. Hudson TJ, Engelstein M, Lee MK, Ho EC, Rubenfield MJ, Adams CP, Housman DE, Dracopoli NC (1992) Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13:622-629
14. Jacobs PA, Hassold TJ (1995) The origin of numerical chromosome abnormalities. In: Hall J. Dunlap J (eds) Advances in genetics, vol. 33. Academic Press, New York, pp 101-133
15. Kalousek DK, Barrett IJ, McGillivray BC (1989) Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 44:338-343
16. Mark HFL, Ahearn J, Lathrop JC (1995) Constitutional trisomy 8 mosaicism and gestational trophoblastic disease. Cancer Genet Cytogenet 80:150-154
17. Pangalos C, Avramopoulos D, Blouin JL, Raoul O, Blois MC de, Prieur M, Schinzel AA, Gika M, Abazis D, Antonarakis SE (1994) Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Am J Hum Genet 54:473-481
18. Polymeropoulos MH, Xiao H, Merril CR (1992) Dinucleotide repeat polymorphism at the human c-myc oncogene locus (MYC). Hum Mol Genet 1:65-65
19. Riccardi VM (1977) Trisomy 8: an international study of 70 patients. Birth Defects 13:171-184
20. Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA (1993) Nondisjunction of chromosome 15 - origin and recombination. Am J Hum Genet 53:740-751
21. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA (1995) Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56:444-451
22. Tomfohrde J, Wood S, Schertzer M, Wagner MJ, Wells DE, Parrish J, Sadler LA, Blanton SH, Daiger SP, Wang Z, Wilkie PJ, Weber JL (1992) Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors. Genomics 14:144-152
23. Weber JL, Kwitek AE, May PE, Patterson D, Drabkin H (1990) Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci. Nucleic Acids Res 18:4038-4038
24. Weissenbach J, Gyapay G, Dib C, Lathrop M (1992) A second-generation linkage map of the human genome. Nature 359: 794-801
25. 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