Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring

Mutation Research - Genetic Toxicology and Environmental Mutagenesis

Volumn 520, Issue 1-2, 2002, Pages 25-37

  Frias, Sara ^a   Ramos, Sandra ^a   Molina, Bertha ^a   Del Castillo, Victoria ^a   Mayén, Dora Gilda ^b  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^b INSTITUTO NACIONAL DE PERINATOLOGÍA   (Mexico)

Author keywords

Aneuploidy; Down syndrome; Etiology of trisomy 21; Lymphocytes; Parental mosaicism; Trisomy 21

Indexed keywords

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; BLOOD ANALYSIS; CENTROMERE; CHROMOSOME ANALYSIS; CHROMOSOME IDENTIFICATION; CONTROLLED STUDY; DOWN SYNDROME; FEMALE; HUMAN; LYMPHOCYTE; MALE; METAPHASE; MOSAICISM; PRIORITY JOURNAL; PROGENY;

ADOLESCENT; ADULT; ANEUPLOIDY; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LYMPHOCYTES; MALE; MATERNAL AGE; MOSAICISM; PHENOTYPE; PREGNANCY; PREGNANCY, HIGH-RISK; RISK FACTORS; TRISOMY;

EID: 0037179494     PISSN: 13835718     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5718(02)00163-8     Document Type: Article

References (62)

1. F. Salamanca (Ed.), Citogenética Humana, 1a Edición, Editorial Médica Panamericana, Mexico, 1990, pp. 117-128.
2. Dagna B., Pierluigi M., Grasso M., Strigini P. Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches. Am. J. Med. Suppl. 7:1990;129-132.
3. Nadal M., Moreno S., Pritchard M., Preciado M.A. DS: characterization of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH. J. Med. Genet. 34:1997;50-54.
4. Ballesta F., Queralt R., Gómez D., Solsona E. Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21. Ann. Genet. 42:1999;11-15.
5. R. McKinlay, G. Sutherland (Eds.), Chromosome Abnormalities and Genetic Counseling, DS: Other Full Aneuploidies, and Polyploidy, Oxford University Press, New York, 1996, pp. 244-335.
6. Petersen M.B., Antonarakis S.E., Hassold T.J., Freeman S.B., Sherman S.L., Avramopoulos D., Mikkelsen M. Paternal nondisjunction in trisomy 21: excess of male patients. Hum. Mol. Genet. 2:1993;1691-1695.
7. Savage A., Petersen M., Pettay D., Taft I. Elucidating the mechanisms of paternal non-disjinction of chromosome 21 in humans. Hum. Mol. Genet. 7:1998;1221-1227.
8. Hassold T., Abruzzo M., Kenneth A., Griffin D. Human aneuploidy: incidence, origin and etiology. Environ. Mol. Mutagen. 28:1996;167-175.
9. Huether C.A., Ivanovich J., Goodwin B.S., Krivchenia E.L. Maternal age specific risk rate estimates for DS among live births in whites and other races from Ohio and Metropolitan Atlanta, 1970-1989. J. Med. Genet. 35:1998;482-490.
10. Juberg R., Knops J., Mowrey P. Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters. J. Med. Genet. 22:1985;32-35.
11. Petersen M.B., Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet. Cell Genet. 91:2000;199-203.
12. Armendares S., Buentello L., Salamanca F. Frecuencia de mixoploidías en 85 casos índice con síndrome de Down. Rev. Inv. Clin. 42:1990;103-107.
13. Blank C.E., Gemmel E., Casey M.D., Lord M. Mosaicism in a mother with a mongol child. Br. Med. J. 2:1962;378-380.
14. Smith D.W., Therman E.M., Patau K.A., Inhorn S.L. Mosaicism in mother with two mongols. Am. J. Dis. Child. 104:1962;534.
15. Weinstein E.D., Warkany J. Maternal mosaicism and Down's syndrome (mongolism). J. Pediatr. 63:1963;599-604.
16. Ferier S. Enfant mongolien-parent mosaique: étude de deux families. J. Genet. Hum. 13:1964;315-336.
17. Verresen H., Van den Berghe H., Creemers J. Mosaic trisomy in the phenotypically normal mother of a mongol. Lancet. 1:1964;526-527.
18. Aarskog D. Down's syndrome transmitted trough maternal mosaicism. Acta Paediatr. Scand. 58:1969;609-614.
19. Mikkelsen M. A Danish survey of patients with Down's syndrome born to young mothers. Ann. N. Y. Acad. Sci. 171:1970;370-378.
20. Krmpotic E., Hardin M.B. Secondary nondisjunction causing regular trisomy 21 in the offspring of a mosaic trisomy 21 mother. Am. J. Obstet. Gynecol. 110:1971;589-590.
21. Timson J., Harris R., Gadd R.L., Ferguson-Smith M.E. Down's syndrome due to maternal mosaicism and the value of antenatal diagnosis. Lancet. 1:1971;549-550.
22. Hsu L., Gertner M., Leiter E., Hirschhorn K. Paternal trisomy 21 mosaicism and Down syndrome. Am. J. Hum. Genet. 23:1971;592-601.
23. Mehes K. Paternal trisomy 21 mosaicism and Down's anomaly. Humangenetik. 17:1973;297-300.
24. Kaffe S., Hsu L.Y.E., Hirschhorn K. Trisomy 21 mosaicism in a young woman with two children with trisomy 21 Down' syndrome. J. Med. Genet. 11:1974;378-379.
25. Papp Z., Cséscei K., Skapinyerz J., Dolhay B. Paternal normal-trisomy 21 mosaicism as an indication for amniocentesis. Clin. Genet. 6:1974;192-194.
26. Richards B.W. Investigation of 142 mosaic mongols and mosaic parents of mongols: cytogenetic analysis and maternal age at birth. J. Med. Def. Res. 18:1974;199-208.
27. Nuzzo F., Stefanini M., Simoni G. A family with a three sibs carrying trisomy 21 mosaicism. Ann. Genet. 18:1975;111-116.
28. Osuna A., Moreno A. Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism. J. Med. Genet. 14:1977;286-287.
29. Krishna-Murthy D.S., Farag T.I. Recurrent regular trisomy 21 in two Bedouin families. Parental mosaicism versus genetic predisposition. Ann. Genet. 38:1995;217-224.
30. Pangalos C., Talbot C.C. Jr., Lewis J.G., Adeisberger P.A. DNA polymorphism analysis in families with recurrence of free trisomy 21. Am. J. Hum. Genet. 51:1992;1027-1051.
31. Moorehead J., Nowel P., Mellman W., Battips D. Chromosome preparations of leucocytes cultured from human principal blood. Exp. Cell. Res. 20:1960;613-616.
32. Hook E.B. Exclusion of chromosomal mosaicism: tables of 90, 95 and 99% confidence limits and comments on use. Am. J. Hum. Genet. 29:1977;94-97.
33. Lisker R. Hallazgos citogenéticos en padecimientos hematológicos malignos. Rev. Invest. Clin. (Mex.). 39:1987;187-196.
34. S.L. Gersen, M.B. Keagle, Principles of clinical cytogenetics. Humana Press, NJ, 1999, pp. 73-76.
35. Anastasi J., Le Beau M., Vardiman J., Westbrook C. Detection of numerical chromosomal abnormalities in neoplastic hematopoietic cells by in situ hybridization with a chromosome-specific probe. Am. J. Pathol. 136:1990;131-139.
36. Elhajouji A., Tibaldi F., Kirsch-Volders M. Indication for a thresholds of chromosome non-disjuntion versus chromosome lagging induced by spindle inhibitors in vitro in human lymphocytes. Mutagenesis. 12:1997;133-140.
37. Mutchinik O.M., Lisker R., Babinski V. Programa mexicano de registro y vigilancia epidemiológica de malformaciones congénitas externas. Salud Publica Méx. 30:1988;88-100.
38. Griffin D.K., Abruzzo M.A., Millie E.A., Feingold E., Hassold T.J. Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome. Am. J. Hum. Genet. 59:1996;1108-1113.
39. James R.S., Ellis K., Pettay D., Jacobs P.A. Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies. Eur. J. Hum. Genet. 6:1998;207-212.
40. Murthy S.K., Prabhakara K. Mitotic disturbance associated with inversion 9qh: a case report. Ann. Genet. 33:1990;169-172.
41. Alfi O., Chang R., Azen S. Evidence for genetic control of nondisjunction in man. Am. J. Hum. Genet. 32:1980;477-483.
42. Harris D., Begleiter M., Chamberlin J., Hankis L. Parental trisomy 21 mosaicism. Am. J. Hum. Genet. 34:1982;125-133.
43. Sachs E.S., Jahoda M.G.J., Los F.J., Pijpers L., Wladimiroff J.W. Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Am. J. Med. Genet. 7:1990;186-188.
44. Eastmond D.A., Pinkel D. Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome-specific DNA probes. Mutat. Res. 234:1990;303-318.
45. Cimino M.C., Tice R.R., Liang J.C. Aneuploidy in mammalian cells in vivo. Mutat. Res. 167:1986;107-122.
46. Jacobs P.A., Brown W.M.C. Distribution of human chromosome counts in relation to age. Nature. 191:1961;1178-1180.
47. Galloway S.M., Buckton K.E. Aneuploidy and ageing: chromosome studies on a random sample of the population using G-banding. Cytogenet. Cell Genet. 20:1978;78-95.
48. Bender M.A., Preston R.J., Leonard R.C., Pyatt B.E., Gooch P.C., Shelby M.D. Chromosomal aberration and sister-chromatid exchange frequencies in peripheral blood lymphocytes of a large human population sample. Mutat. Res. 204:1988;421-433.
49. Vega L., Gonsebatt M.E., Ostrosky-Wegman P. Aneugenic effect of sodium arsenite on human lymphocytes in vitro: and individual susceptibility effect detected. Mutat. Res. 334:1995;365-373.
50. Carere A., Antoccia A., Cimini D., Crebelli R., Degrassi F., Leopardi P., Marcon F., Sgura A., Tanzarella C., Zijno A. Análisis of chromosome loss and non-disjunction in cytokinesis-blocked lymphocytes of 24 male subjects. Mutagenesis. 14:1999;491-496.
51. Catalán J., Surrallés J., Falck G.C.M., Autio K., Norppa H. Segregation of sex chromosomes in human lymphocytes. Mutagenesis. 15:2000;251-255.
52. Hassold T., Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet. 2:2001;280-291.
53. Antonarakis S., Kittur S., Metaxotou C., Watkins P. Analysis of DNA haplotypes suggests a genetic predisposition to trisomy 21 associated with DNA sequences on chrosome 21. Proc. Natl. Acad. Sci. U.S.A. 82:1985;3360-3364.
54. Yang Q., Sherman S.L., Hassold T.J., Allran K., Taft L., Pettay D., Khoury M.J., Erickson J.D., Freeman S.B. Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genet. Med. 1:1999;80-88.
55. Chen C., Gilbert T.J., Daling J.R. Maternal smoking and Down syndrome: the confounding effect of maternal age. Am. J. Epidemiol. 149:1999;442-446.
56. Hook E.B., Cross P.K. Maternal cigarette smoking, Down syndrome in live births, and infant race. Am. J. Hum. Genet. 42:1988;482-489.
57. Shi Q., Ko E., Barclay L., Hoang T., Rademaker A., Martin R. Cigarette smoking and aneuploidy in human sperm. Mol. Reprod. Dev. 59:2001;417-421.
58. Rubes J., Lowe X., Moore D. II, Perreault S., Slott V., Evenson D., Selevan S.G., Wyrobek A.J. Smoking cigarettes is associated with increased sperm disomy in teenage men. Fertil. Steril. 70:1998;715-723.
59. F. Vogel, A.G. Motulsky, Human genetics: problems and approaches, Mutation, Spnnger, Berlin, 1974, pp. 291-292, Chapter 5.
60. Uchida I., Freeman V. Trisomy 21 Down syndrome. II. Structural chromosome rearrangements in the parents. Hum. Genet. 72:1986;118-122.
61. A. Wyrobek, X.R. Lowe, Multiprobe fluorescence in situ hybridization methods for detecting chromosomally defective sperm in mice and humans, in: M. Andreeff, D. Pinkel (Eds.), Introduction to Fluorescence In Situ Hybridization: Principles and Clinical Applications, Wiley, New York, 1999, pp. 391-408.
62. Frias S., Van Hummelen P., Meistrich M., Lowe X., Shelby M.D., Wyrobek A.J. NOVP chemotherapy induces transient increases in disomy 18 and 21 in sperm of Hodgkin's disease patients. Am. J. Hum. Genet. S. 63:1998;758.