Abstract
A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p]
References
Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang PR (1982) Prenatal diagnosis in 3000 women for chromosome, X-linked and metabolic disorders. Am J Med Genet 11: 61–75
Harris DJ, Begleiter ML, Chamberlin J, Hankins L, Magenis RE (1982) Parental trisomy 21 mosaicism. Am J Hum Genet 34:125–133
Hsu LYF, Gertner M, Leiter E, Hirschhorn K (1971) Paternal trisomy 21 mosaicism and Down's syndrome. Am J Hum Genet 23: 592–601
UchidaIA, Freeman VCP (1985) Trisomy 21 Down syndrome: parental mosaicism. Hum Genet 70:246–248
Nielsen KG, Poulsen H, Mikkelsen M, Steuber E (1988) Multiple recurrence of trisomy 21 Down syndrome. Hum Genet 78: 103–105
Sachs ES, Jahoda MGJ, Los FJ, Pijpers L, Wladimiroff JW (1990) Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Am J Med Genet 7: 186–188
Pangalos CG, Talbot CC, Lewis JG, Adelsberger PA, Petersen MB, Serre JL, Rethoré MO, de Blois MC, Parent P, Schinzel AA, Binkert F, Bone J, Corbin E, Croquette MF, Gilgenkrantz S, de Grouchy J, Bertheas MF, Prieur M, Raoul O, Serville F, Siffroi JP, Thepot F, Leieune J, Antonarakis SE (1992) DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet 51: 1015–1027
Antonarakis SE, and the Down syndrome collaborative group (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. N Engl J Med 324: 872–876
Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M, Cohen MM, Roulson D, Schwartz S, Mikkelsen M, Tranebjaerg L, Greenberg F, Hoar DI, Rudd NL, Warren AC, Metaxotou C, Bartsocas C, Chakravarti A (1992) The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 50:544–550
Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE (1993) Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet 53: 1074–1078
Giraud F, Mattei JF (1975) Aspects epidemiologues de la trisomy 21. J Genet Hum 23: 130
Hassold TJ, Jacobs PA (1984) Trisomy in man. Ann Rev Genet 18:69–97
Palka G, Ciecotelli M, Sabatino G, Calabrese G, Franchi PG, Stuppia L, Parruti G, Virgilio CD, Sante OD (1990) Cytogenetic study of the heterochromatic polymorphisms in 100 subjects with Down syndrome and their parents. Am J Med Genet 7:201–203
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: 199–208
Walker FA, Ising R (1969) Mosaic Down's syndrome in a father and daughter. Lancet 1: 374
Werner W, Herrmann FH, John B (1982) Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome. Hum Genet 60: 202–204
Niikawa N, Kajii T (1984) The origin of mosaic Down syndrome: four cases with chromosome markers. Am J Hum Genet 36:123–130
Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC Jr, Schinzel AA (1993) Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genet 3: 146–149
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Tseng, L.H., Chuang, S.M., Lee, T.Y. et al. Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism. Arch Gynecol Obstet 255, 213–216 (1994). https://doi.org/10.1007/BF02335088
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02335088