Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype

Clinical Genetics

Volumn 53, Issue 4, 1998, Pages 258-261

  Smith, Martin J ^a   Creasy, Michael R ^a   Clarke, Angus ^a   Upadhyaya, Meena ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Genetic imprinting; Sex ratio; Spontaneous abortion; Uniparental disomy

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; AUTOSOME; CHROMOSOME ABERRATION; CHROMOSOME POLYMORPHISM; CLINICAL ARTICLE; FETUS; HUMAN; INHERITANCE; KARYOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX RATIO; SPONTANEOUS ABORTION; UNIPARENTAL DISOMY; UNITED KINGDOM;

EID: 0031979458     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02692.x     Document Type: Article

References (36)

1. Clarke A. Genetic imprinting in clinical genetics. Development 1990: 111(Suppl): 131-139.
2. Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980: 6: 137-143.
3. Efstratidis A. Parental imprinting of autosomal mammalian genes. Curr Opin Genet 1994: 4: 265-280.
4. Abel MR, Johnson VJ, Holz F. Ovarian neoplasms in childhood and adolescence. Am J Obstet Gynecol 1965: 92: 1059-1081.
5. Linder D, McCaw BK, Hecht F. Parthenogenic origin of benign ovarian teratomas. N Engl J Med 1975: 292: 63-66.
6. Vassilakos P, Riotton G, Kajii T. Haydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical considerations. Am J Obstet Gynecol 1977: 127: 167-170.
7. Cattanach BM, Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 1985: 315: 496-498.
8. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Mehes K, Hamel BCJ, Otten BJ, Hergersberg M, Werder E, Schoenle E, Schinzel A. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995: 4: 583-587.
9. Koufos A, Grundy P, Morgan K, Aleck KA, Hadro T, Lampkin BC, Kalbakji A, Cavanee WK. Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Am J Hum Genet 1989: 44: 711-719.
10. Henry I, Bonaitipellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991: 351: 665-667.
11. Moutou C, Caudine J, Henry I, Bonaiti-Pellie C. Beckwith-Wiedemann syndrome: A demonstration of the mechanisms responsible for the excess of transmitting females. Am J Med Genet 1992: 29: 217-220.
12. Viljoen D, Ramesar R. Evidence for paternal imprinting in Beckwith-Wiedemann syndrome. J Med Genet 1992: 29: 221-225.
13. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989: 342: 281-285.
14. Malcolm S, Clayton-Smith J, Nicholls M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME. Uniparental paternal disomy in Angelmans syndrome. Lancet 1991: 337: 694-697.
15. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980: 44: 151-178.
16. Creasy MR, Crolla JA, Alberman ED. A cytogenetic study of human spontaneous abortions. Hum Genet 1976: 31: 177-196.
17. Boue J, Boue A, Lazar P. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 1975: 12: 11-26.
18. Spence JE, Pergaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Uniparental disomy as a mechanism for human disease. Am J Hum Genet 1988: 42: 217-226.
19. Henderson DJ, Sherman LS, Loughna SC, Bennett PR, Moore GE. Early embryonic failure associated with uniparental disomy for human chromosome 21. Hum Mol Genet 1994: 3: 1373-1376.
20. Byrne J, Warburton D. Male excess among anatomically normal fetuses in spontaneous abortions. Am J Med Genet 1987: 26: 605-611.
21. Songster GS, Sun L, Chang S-C, Cheung SW. Chromosome analysis in spontaneous pregnancy loss: use of placental villus mesodermal core cell cultures. Am J Med Genet 1992: 42: 785-788.
22. Guerneri S, Bettio D, Simoni G, Brambati B, Lanzani A, Fraccaro M. Prevalence and distribution of chromosome abnormalities in a sample of first and second trimester internal abortions. Hum Reprod 1987: 2: 735-739.
23. Eiben B, Borgmann S, Schubbe I, Hansmann I. A cytogenetic study directly from chorionic villi of 140 spontaneous abortions. Hum Genet 1987: 77: 137-141.
24. Warburton D, Stein Z, Kline J, Susser M. Chromosome abnormalities in spontaneous abortion: data from the New York city study. In: Porter IH, Hook EB, eds. Human Embryonic and Fetal Death. New York: Academic Press, 1980: 261-287.
25. Kunkel LM, Smith KD, Boyer SH, Borgoankar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM. Analysis of human Y chromosome specific reiterated DNA in chromosome varients. Proc Natl Acad Sci USA 1977: 74: 1245-1249.
26. Lewis JG, Weber JL, Petersen MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, Chakravarti A, Antonarakis SE. Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics 1990: 8: 400-402.
27. Vignal A, Gyapay G, Hazan J, Nguyen S, Dupraz C, Cheron N, Becuwe N, Tranchant M, Weissenbach J. Non-radioactive multiplex procedure for genotyping of microsatellite markers. Methods Mol Genet 1993: 1: 211-221.
28. Lentner C, ed. Geigy scientific tables. Introduction to Statistics, Statistical Tables, Mathematical Formulae, Vol. 2. Ciba-Geigy 1982: 90.
29. Blouin J-L, Avramopoulos D, Pangalos D, Antonarakis SE. Normal phenotype with paternal uniparental disomy for chromosome 21. Am J Hum Genet 1993: 53: 1074-1078.
30. Creau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabauis M-O, Stehelin D, Turleau C, de Grouchy J. Maternal origin of a de novo balanced t(21q21q) identified by ETS-2 polymorphism. Hum Genet 1987: 76: 396-398.
31. Lindenbaum RH, Woods CG, Norbury CG, Povey S, Rysiecki G. An individual with maternal disomy of chromosome 4 and iso(4p),iso4(q). Am J Hum Genet 1991: 49: A1582.
32. Van Den Bergloonen EM, Savelkoul P, Van Hooff H, Van Eede P, Riesewijk A, Geraedts J. Uniparental maternal disomy 6 in a renal transplant patient. Hum Immunol 1996: 45: 46-51.
33. Stallard R, Krueger S, James RS, Schwartz S. Uniparental disomy 13 in a normal female due to transmission of a maternal t(13q:13q). Am J Med Genet 1995: 57: 14-18.
34. Slater H, Shaw JH, Bankier A, Forrest SM, Dawson G. UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13. J Med Genet 1995: 32: 493.
35. Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yuksel-Apak M, Robinson WP. Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 1994: 54: 21-24.
36. Kajii T, Niikawa N, Takahara H, Ohama K, Avirachan S. Anatomic and chromosomal anomolies in 639 spontaneous abortions. Hum Genet 1980: 55: 87-98.