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Here is an alphabetical list of the many references that were used to create this website.  Some have been referenced specifically throughout the site, others were used in a more general way.  Links to the abstracts in PubMed are provided.

The references listed in the chromosome specific sections are not included here.

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Genetics Clinics

    Almeida PA, Bolton VN. (1996) The relationship between chromosomal abnormality in the human preimplantation embryo and development in vitro.  Reprod Fertil Dev. 8(2):235-41. PubMed

Bianchi DW, Wilkins-Haug LE, Enders AC, Hay ED. (1993) Origin of extraembryonic mesoderm in experimental animals: relevance to chorionic mosaicism in humans. American Journal of Medical Genetics 46(5):542-50. PubMed

Bui TH, Iselius L, Lindsten J. (1984) European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenatal Diagnosis Spring;4 Spec No:145-62. PubMed

Chernos JE. (1994) Prenatal genetic counselling corner, unexpected chromsome results detected at prenatal diagnosis: II. Mosaicism. Bulletin of the hereditary diseases program of Alberta. Vol 12, No.2. Article 

Farra C, Giudicelli B, Pellissier MC, Philip N, Piquet C. (2000) Fetoplacental chromosomal discrepancy. Prenatal Diagnosis 20(3):190-3. PubMed

Gardner RJM and Sutherland GR (1996) Chromosome Abnormalities and Genetic Counseling.  Oxford monographics on Medical Genetics No.29. Oxford University Press, New York. 2nd Edition. 

Goldberg JD, Wohlferd MM. (1997) Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling. Am J Obstet Gynecol. 176(6):1349-52; discussion 1352-3. PubMed

Hahnemann JM, Vejerslev LO. (1997) Accuracy of cytogenetic findings on chorionic villus sampling (CVS)—diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenatal Diagnosis 17(9):801-20. PubMed

Hahnemann JM, Vejerslev LO. (1997) European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. American Journal of Medical Genetics 70(2):179-87. PubMed

Harper JC, Delhanty JD. (2000) Preimplantation genetic diagnosis. Curr Opin Obstet Gynecol. 12(2):67-72. PubMed

Hassold TJ, Jacobs PA. (1984) Trisomy in man. Annu Rev Genet. 18:69-97. 

Hsu LY. (1998) Prenatal diagnosis of chromsomal abnormalities through amniocentesis. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 4th Edition. Ed by Milunsky A. The Johns Hopkins University Press, Baltimore and London, p.203-248

Hsu LY, Benn PA. (1999) Revised guidelines for the diagnosis of mosaicism in amniocytes. Prenatal Diagnosis 19:1081-1090 PubMed

Hsu LY, Yu MT, Neu RL, Van Dyke DL, Benn PA, Bradshaw CL, Shaffer LG, Higgins RR, Khodr GS, Morton CC, Wang H, Brothman AR, Chadwick D, Disteche CM, Jenkins LS, Kalousek DK, Pantzar TJ, Wyatt P. (1997) Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenatal Diagnosis 17(3):201-42. PubMed

Kalousek DK. (2000) Pathogenesis of chromosomal mosaicism and its effect on early human development. American Journal of Medical Genetics 91(1):39-45. PubMed

Kalousek DK, Barrett IJ. (1994) Genomic imprinting related to prenatal diagnosis. Prenatal Diagnosis 14:1191-1201

Kalousek DK, Dill, FJ. (1983) Chromosomal mosaicism confined to the placenta in human conceptions.  Science 221:665

Kalousek DK, Vekemans M. (1996) Confined placental mosaicism. Journal of Medical Genetics 33(7):529-33. PubMed

Ledbetter DH, Engel E. (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Human Molecular Genetics 4:1757-1764 PubMed

Los FJ, van Opstal D, van den Berg C, Braat AP, Verhoef S, Wesby-van Swaay E, van den Ouweland AM, Halley DJ. (1998) Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue. Prenatal Diagnosis 18(7):659-68. PubMed

Phillips OP, Tharapel AT, Lerner JL, Park VM, Wachtel SS, Shulman LP. (1996) Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol. 174(3):850-5. PubMed

Robinson WP. (2000) Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22(5):452-9 PubMed

Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. (1997) Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. American Journal of Human Genetics 60(4):917-27. PubMed

Robinson WP, Bernasconi F, Lau A, McFadden DE. (1999) Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. American Journal of Medical Genetics 84(1):34-42. PubMed

Sachs ES, Jahoda MG, Los FJ, Pijpers L, Reuss A, Wladimiroff JW. (1990) Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies. American Journal of Medical Genetics 37(2):268-71. PubMed

Shaffer LG, McCaskill C, Adkins K, Hassold TJ. (1998) Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. American Journal of Medical Genetics 79:366-372 PubMed

Simoni G, Sirchia SM. (1994) Confined placental mosaicism. Prenatal Diagnosis Dec;14(13):1185-9. PubMed

Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. (1999) The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. Prenatal Diagnosis 19(9):817-26. PubMed

Stavropoulos DJ, Bick D, Kalousek DK. (1998) Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. American Journal of Human Genetics 63(6):1912-4. PubMed

Tyson RW, Kalousek DK. (1992) Chapter 4: Chromosomal abnormalities in stillbirht and newonatal death. In Developmental Pathology of the Embryo and Fetus. Ed by Dimmick JE and Kalousek DK. JB Lippincott Company, Philadelphia, Pp 103-109.

Van Opstal D, Van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE, Halley DJ, Van den Ouweland AM, In 't Veld PA, Los FJ. (1998) Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy. Prenatal Diagnosis 18(1):35-44. PubMed

Wallerstein R, Yu MT, Neu RL, Benn P, Lee Bowen C, Crandall B, Disteche C, Donahue R, Harrison B, Hershey D, Higgins RR, Jenkins LS, Jackson-Cook C, Keitges E, Khodr G, Lin CC, Luthardt FW, Meisner L, Mengden G, Patil SR, Rodriguez M, Sciorra LJ, Shaffer LG, Stetten G, Van Dyke DL, Wang H. (2000) Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations. Prenatal Diagnosis 20(2):103-22. PubMed

Winsor EJT, Tomkins DJ, Dalousek D, Farrell S, Wyatt P, Fan Y-S, Carter R, Wang H, Dallaire L, Eydoux P, Welch JP, Dawson A, Lin JCC, Singer J, Johnson J, Wilson RD. (1999) Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT). Prenatal Diagnosis 19:620-627 PubMed

Wolstenholme J. (1996) Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenatal Diagnosis 16(6):511-24. PubMed

Wolstenholme J, Rooney DE, Davison EV. (1994) Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenatal Diagnosis 14(5):345-61. PubMed

 

 

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