The X chromosome and recurrent spontaneous abortion: The significance of transmanifesting carriers

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 934-938

  Lanasa, Mark C ^a   Hogge, W Allen ^b   Hoffman, Eric P ^a,c  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE LOCUS; HUMAN; LETHALITY; PRIORITY JOURNAL; RECURRENT ABORTION; REVIEW; SPONTANEOUS ABORTION; X CHROMOSOME; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE; DOMINANT GENE; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISORDER; GENETIC LINKAGE; GENETICS; HETEROZYGOTE; LETHAL GENE; PREGNANCY;

ABORTION, HABITUAL; DOSAGE COMPENSATION, GENETIC; FEMALE; GENES, DOMINANT; GENES, LETHAL; GENETIC DISEASES, INBORN; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); PREGNANCY; X CHROMOSOME;

EID: 0033365207     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302352     Document Type: Article

References (30)

1. Camus P, Abbadi N, Perrier MC, Chery M, Gilgenkrantz S (1996) X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe. Hum Genet 97:247-250
2. Clerc P, Avner P (1998) Role of the region 3′ to Xist exon 6 in the counting process of X-chromosome inactivation. Nat Genet 19:249-253
3. Devriendt K MG, Fryns JP, Ballegeer V (1998) Second trimester miscarriage of a male fetus with incontinentia pigmenti. Am J Med Genet 80:298-299
4. Eiben B, Bartels I, Bahr-Porsch S, Borgmann S, Gatz G, Gellert G, Goebel R, et al (1990) Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 47:656-663
5. Gale RE, Fielding AK, Harrison CN, Linch DC (1997) Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age. Br J Haematol 98:512-519
6. Garcia-Dorado J, de Unamuno P, Fernandez-Lopez E, Salazar Veloz J, Armijo M (1990) Incontinentia pigmenti: XXY male with a family history. Clin Genet 38:128-138
7. Guerneri S, Bettio D, Simoni G, Brambati B, Lanzani A, Fraccaro M (1987) Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions. Hum Reprod 2:735-739
8. Haldane J (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317-326
9. Hatasaka HH (1994) Recurrent miscarriage: epidemiologic factors, definitions, and incidence. Clin Obstet Gynecol 37: 625-634
10. Lanasa MC, Hogge WA, Kubik CJ, Ness RJ, Hoffman EP (1998) A subset of recurrent pregnancy loss is caused by X-linked lethal traits. American Society of Human Genetics Annual Meeting, Denver, October 28-31, pp A6-24
11. Lee JT, Jaenisch R (1997) The (epi)genetic control of mammalian X-chromosome inactivation. Curr Opin Genet Dev 7:274-280
12. Marahrens Y, Loring J, Jaenisch R (1998) Role of the Xist gene in X chromosome choosing. Cell 92:657-664
13. Migeon BR (1998) Non-random X chromosome inactivation in mammalian cells. Cytogenet Cell Genet 80:142-148
14. Migeon BR, Axelman J, de Beur SJ, Valle D, Mitchell GA, Rosenbaum KN (1989) Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet 44:100-106
15. Naumova AK, Plenge RM, Bird LM, Leppert M, Morgan K, Willard HF, Sapienza C (1996) Heritability of X chromosome - inactivation phenotype in a large family. Am J Hum Genet 58:1111-1119
16. Neri G, Serra A, Campana M, Tedeschi B (1983) Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet 16:535-561
17. Panning B, Dausman J, Jaenisch R (1997) X chromosome inactivation is mediated by Xist RNA stabilization. Cell 90: 907-916
18. Parolini O, Ressmann G, Haas OA, Pawlowsky J, Gadner H, Knapp W, Holter W (1998) X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med 338:291-295
19. Pegoraro E, Whitaker J, Mowery-Rushton P, Surti U, Lanasa M, Hoffman EP (1997) Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet 61:160-170
20. Penny GD, Kay GF, Sheardown SA, Rastan S, Brockdorff N (1996) Requirement for Xist in X chromosome inactivation. Nature 379:131-137
21. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, Winter RM, et al (1997) A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 17:353-356
22. Puck JM, Willard HF (1998) X inactivation in females with X-linked disease. N Engl J Med 338:325-328
23. Roberts JL, Morrow B, Vega-Rich C, Salafia CM, Nitowsky HM (1998) Incontinentia pigmenti in a newborn male infant with DNA confirmation. Am J Med Genet 75:159-163
24. Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U (1997) A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 61:634-641
25. Schmidt M, Du Sart D (1992) Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet 42: 161-169
26. Sirianni NS, Pereira J, Pillotto RF, Hoffman EP (1998) Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 63: 1552-1558
27. Stephenson MD (1996) Frequency of factors associated with habitual abortion in 197 couples. Fertil Steril 66:24-29
28. Stray-Pedersen B, Stray-Pedersen S (1984) Etiologic factors and subsequent reproductive performance in 195 couples with a prior history of habitual abortion. Am J Obstet Gynecol 148:140-146
29. Willard HF (1996) X chromosome inactivation, XIST, and pursuit of the X-inactivation center. Cell 86:5-7
30. Wolf GC, Horger EO III (1995) Indications for examination of spontaneous abortion specimens: a reassessment. Am J Obstet Gynecol 173:1364-1368