Parental mosaicism for trisomy 21: Problems with its detection and an approach to determininig its population rate

Genetic Testing

Volumn 11, Issue 3, 2007, Pages 341-344

  Kovaleva, Natalia V ^a  

^a NORTH WESTERN STATE MEDICAL UNIVERSITY NAMED AFTER I I MECHNIKOV   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CYTOGENETICS; DNA POLYMORPHISM; FETUS DEATH; GENETIC COUNSELING; GERM CELL; HUMAN; HUMAN GENETICS; INTRAUTERINE GROWTH RETARDATION; POPULATION; PROGENY; TRISOMY 21;

CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; GENETICS, POPULATION; HUMANS; MOSAICISM; TRISOMY;

EID: 35348961532     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0515     Document Type: Article

References (39)

1. Aagesen L, Grinsted J, Mikkelsen M (1984) Advanced grandmaternal age on the mother's side: a risk of giving rise to trisomy 21. Ann Hum Genet: 48:297-301.
2. Arbuzova S, Cuckle H, Mueller R, Sehmi I (2001) Familial Down syndrome: evidence supporting cytoplasmic inheritance. Clin Gnet 60:456-462.
3. Bartmann AK, Araujo FM, Iannetta O, Paneto JC, Martelli L, Ramos ES (2005) Down syndrome and precocious menopause. J Assist Reprod Genet 22:129-131.
4. Bruyére H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP (2000) Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. Am J Med Genet 94:35-41.
5. Chango A, Fillon-Emery N, Mircher C, Blehaut H, Lambert D, Herbeth B, James SJ, Rethore MO, Nicolas JP (2005) No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers. Br J Nutr 94:166-169.
6. Cozzi J, Coun CM, Harper J, Winston RML, Rindl M, Farndon PA, Delhanty JDA (1999) A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception. Hum Genet 104:23-28.
7. Engel U, Bohlander SK, Bink K, et al. (2001) Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism. Hum Reprod 16:63-66.
8. Eskes TK (2006) Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature. Eur J Obstet Gynecol Reprod Biol 124:130-133.
9. Faruqi SA, Noumoff MJ, Deger RB, Jalal SM, Antoniades K (2002) Trisomy 21 as the only recurrent chromosomal anomaly in a clinically aggressive ovarian carcinoma. Cancer Genet Cytogenet 138:165-168.
10. Frias S, Ramos S, Molina B, del Castillo V, Mayen DG (2002) Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring. Mutat Res 52:25-37.
11. Gardner RJM, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL,Tumewu P, Watt AJ (1994) Mosaicism with a normal cell line and an autosomal structural rearrangement. J Med Genet 31:108-114.
12. Gianaroli L, Magli MC, Ferraretti AP, Munne S, Balicchia B, Escudero T, Crippa A (2002) Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 17:3201-3207.
13. Haas OA, Seyger M (1993) Hypothesis: meiotic origin of trisomic neoplasms. Cancer Genet Cytogenet 70:112-116.
14. Kallen B (1988) Down's syndrome and maternal cancer. A preliminary study. APMIS 96:168-170.
15. Kline J, Kinney A, Levin B, Warburton D (2000) Trisomic pregnancy and earlier age at menopause. Am J Hum Genet 67:395-404.
16. Kovaleva NV (2005) Sex-specific instability in early human development. Am J Med Genet 136A:401-413.
17. Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL (1996) Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 14:400-405.
18. Malini SS, Ramachandra NB (2006) Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet 7:4.
19. Mercier S, Bresson JL (1997) Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY,+8 male by means of multicolour fluorescent in situ hybridization: confirmation of a mosaicism and evaluation of risk for offspring. Hum Genet 99:42-46.
20. Migliore L, Boni G, Bernardini R, Trippi F, Colognato R. Fontana I, Coppede F, Sbrana I (2006) Susceptibility to chromosome malsegregation in lymphocytes of women who had a Down syndrome child in young age. Neurobiol Aging 27:710-716.
21. Nielsen K, Kim G, Poulsen H, Mikkelsen M (1988) Multiple recurrence of trisomy 21 Down syndrome. Hum Genet 78:103-105.
22. Pangalos CG, Talbot CC Jr, Lewis JG, Adelsberger PA, Petersen MB, Serre JL, Rethore MO, de Blois MC, Parent P, Schinzel AA, et al. (1992) DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet 51:1015-1027.
23. Penrose LS, Smith GF (1966) Down's anomaly. Little, Brown & Co. Boston, MA.
24. Potter H (1991) Review and hypothesis: Alzheimer disease and Down syndrome - chromosome 21 nondisjunction may underlie both disorders. Am J Hum Genet 48:1192-200.
25. Priest JH, Verhulst C, Sirkin S (1973) Parental dermatoglyphics in Down's syndrome. A ten-year study. J Med Genet 10:328-332.
26. Richards BW (1974) Investigation of 142 mosaic mongols and mosaic parents of mongols; cytogenetic analysis and maternal age at birth. J ment Defic Res 18:199-204.
27. Robinson WP, McFadden DE, Stephenson MD (2001) The origin of abnormalities in recurrent aneuploidy/polyploidy. Am J Med Genet 69:1245-1254.
28. Schupf N, Kapell D, Nightingale B, Lee JH, Mohlenhaff J, Bewley S, Ottman R, Mayeux R (2001) Specificity of the fivefold increase in AD in mothers of adults with Down syndrome. Neurology 57:979-984.
29. Sensi A, Ricci N (1993) Mitotic errors in trisomy 21. Nat Genet 5:215.
30. Sherman SL, Freeman SB, Allen EG, Lamb NE (2005) Risk factors for nondisjunction of trisomy 21. Cytogenet Genome Res 111:273-280.
31. Somprasit C, Aguinaga M, Cisneros PL, Torsky S, Carson SA, Buster JE, Amato P, McAdoo SL, Simpson JL, Bischoff FZ (2004) Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable. Reprod Biomed Online 9:225-230.
32. Speed RM (1984) Meiotic configuration in female trisomy 21 foetuses. Hum Genet 66:176-180.
33. Sperling K, Pelz J, Wegner RD, Dorries A, Gruters A, Mikkelsen M (1994) Fallout from Chernobyl. Authors stand by study that Chernobyl increased trisomy 21 in Berlin. BMJ 309:1299.
34. Tarlatsis BC, Toncheva DI, Vatev IT (2000) Significance of chromosome aberrations for unsuccessful procedures of assisted reproduction. Eur J Obstet Gynecol Reprod Biol 88:181-187.
35. Tseng L-H, Chuang SM, Lee T-Y, Ko T-M (1994) Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism. Arch Gynecol Obstet 255:213-216.
36. Tuerlings JH, de France HF, Hamers A, et al. (1998) Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 6:194-200.
37. Uchida IA, Freeman VCP (1985) Parental mosaicism. Hum Genet 70:246-248.
38. Warburton D (2005) Biological aging and the etiology of aneuploidy. Cytogenet Genome Res 111:266-272.
39. Zheng C-J, Byers B (1992) Oocyte selection: a new model for the maternal-age dependence of Down syndrome. Hum Genet 90:1-6