Karyological characteristics of the Down syndrome: Clinical and theoretical aspects

Tsitologiya

Volumn 41, Issue 12, 1999, Pages 1019-1021

  Kovaleva, N V ^a   Butomo, I V ^a   Verlinskayta, D K ^a   Ilyashenko, T N ^a   Pantova, I G ^a   Prozorova, M V ^a   Khitrikova, L E ^a   Shandlorenko, S K ^a  

^a INSTITUTE OF BIOMEDICAL CHEMISTRY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; DOWN SYNDROME; FEMALE; GENETICS; HUMAN; KARYOTYPING; MALE; PATHOLOGY;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DOWN SYNDROME; FEMALE; HUMANS; KARYOTYPING; MALE;

EID: 0345913705     PISSN: 00413771     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (78)

1. Abe K., Kajii T., Niikawa N. 1989. Disomic homozygotity in 21-trisomic cells: a mechanism responsible for mieloproliferative syndrome. Hum. Genet. 82 : 313-316.
2. Al-Awadi S. A., Farag T. I., Teebi A. S. 1990. Down syndrome in Kuwait. Amer. J. Med. Genet. Suppl. 7 : 87-88.
3. Al-Awadi S. A., Krishna Murthy D. S., Farag T. I., Teebi A. S., Naguib K. K., Sundareshan T. S., Murthy D. S. 1997. Cytogenetic profile of DS in Kuwait. Cytogenet. Cell Genet. 77 (Suppl. 1) : 7.
4. Anneren G., Wahlstrom J., Tommerup N. 1984. Makrer chromosomes in parents to children with Down's syndrome. Clin. Genet. 25 : 140-147.
5. Antonarakis S. 1993. Human chromosome 21: genome mapping and exploration, circa 1993. Trends in Genet. 9 : 142-148.
6. Binkert F., Adelsberger P. A., Antonarakis S. A., Achermann J., Schinzel A., Schmid W. 1992. Confirmation of prenatally diagnosed trisomy 21 in aborted fetuses with DNA markers. Prenat. Diagn. Genet. 12 (Suppl.) : 51.
7. Brahe C., Tassone F., Moscetti A., Millington-Ward A., Bova R., Serra A. 1990. Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. Amer. J. Med. Genet. (Suppl.) : 125-128.
8. Buckton K. E., Spowart G., Newton M. S., Evans H. J. 1985. Forty four probands with an additional «marker» chromosome. Hum. Genet. 69 : 353-370.
9. Bui T.-H., Iselius L., Lindsten J. 1984. European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat. Diagn. 4 : 145-162.
10. Callen D. F., Eyre H., Yip M.-Y., Freemantle J., Haan E. A. 1992. Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. Amer. J. Med. Genet. 43 : 709-715.
11. Casati A., Giorgi R., Lanza A., Raimondi E., Vagnarelli P., Mondello C., Ghetti P., Piazzi G., Nuzzo F. 1992. Trisomy 21 mosaicism in two subjects from two generations. Ann. Genet. 35 : 245-50.
12. Choo K. H., Vissel B. 1990. Complex organization of alpha DNA on human acrocentric chromosomes: implications for centromere structure, Robertsonian translocation, and meiotic nondisjunction. Amer. J. Huj. Genet. 47 (Suppl.) : 211.
13. Coffey W. W. 1986. The origin of the extra chromosome in Down syndrome in Northern Ireland. Med. Lab. Sci. 43 : 97.
14. Croci G., Franchi F. 1991. Parental mosaicism in de novo translocation (21q21q) Down's syndrome. J. Med. Genet. 28: 502.
15. Dagna Bricarelli F. 1985. I mio bambino Down e a mosaico? Sindrome Down. 4 : 4-7.
16. Daniel A., Hook E. B., Wulf G. 1988. Collaborative U.S.A. data on prenatal diagnosis for parental carriers of chromosome rearrangements: risk of unbalanced progeny. In: The cytogenetics of mammalian autosomal rearrangements. New York: Allan R. Liss. 73-162.
17. Deng Han-Xiang. 1991. Parental origin and mechanism of formation of de novo chromosome abnormalities: 25 cases of numerical and structural abnormalities determined by restriction fragment length polymorphisms. Acta med. Nagasaki. 36 : 73-84.
18. D'Souza N., Handler M. 1987. Chromosome abnormalities in parents of s single child with nondisjunctional autosomal trisomy. Amer. J. Hum. Genet. 41 : A116.
19. Engel E. 1993. Uniparental disomy revisited: the first twelve years. Amer. J. Med. Genet. 46 : 670-674.
20. Erateschi M., Arslanian A., Pierluigi M., Ferro M. A., Gessaga M., Coviello D. A., Strigini P., Dagna Bricarelli F. 1984. Origine parentale del cromosoma 21 sovrannumerario in 267 soggetti con Sindrome di Down. Relazione fra non-disgiunzione ed eta dei genitori. In: Asp. epidemiol., genet., clin., riabil. E soc. Sindrome di Down: 5 Conv.: Futuro bimbi Down, Genova, 1-3 dic., 1983. Genova. 79-93.
21. Grace E.., Sills J. 1978. The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship. Hum. Genet. 43 : 111-114.
22. Grell R. F. 1971. Distibutive pairing in man? Ann. Genet. 14 : 165-171.
23. Guttenbach M., Engel W., Schmid M. 1997. Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum. Genet. 100 : 1-21.
24. Hall B. D. 1985. Recurrence risk in de novo 21q21q translocation Down syndrome. Amer. J. Med. Genet. 22 : 417-418.
25. Hamerton J. L., Canning N., Ray M., Smith S. 1975. A cytogenetic survey of 14069 newborn infants. Incidence of chromosome anomalies. Clin. Genet. 8 : 223-243.
26. Hassold T., Sherman S. 1999. Trisomy 21. Down's syndrome Screening News. 6 : 1.
27. Holzgreve B., Exeter R., Holzgreve W., Wittwer B., Miny P. 1992. Non-viable trisomies confined to the placenta leading to poor pregnancy outcome. Prenat. Diagn. 12 (Suppl.) : 95.
28. Hook E. B. 1981. Interchange trisomic Down's syndrome and Patau's syndrome: general approaches to estimating mutation rates and epidemiological advantages for monitoring. In: Population and biological aspects of human mutation. New York: Acad. Press. 167-190.
29. Horn L-C., Rosenkratz M., Bilek K. 1990. Genetische Aspekte bei fruhen Spontanaborten. Zbl. Gynakol. 112 : 123-133.
30. Iselius L., Lindsten J. 1986. Changes in the incidence of Down syndrome in Sweden during 1968-1982. Hum. Genet. 72 : 133-139.
31. Kosztolanyi G., Mehes K., Hook E. B. 1991. Inherited ring chromosomes: an analysis of published cases. Hum. Genet. 87 : 320-324.
32. Kovaleva N. V. 1997. In mosaic constitution harmful to Down syndrome males? Cytogenet. Cell Genet. Suppl. 1 : 8.
33. Kovaleva N. V. 1999. Why females are more often suspected to have trisomy 21 Down syndrome? Second Eur. Cytogenet. Conf. Vienna, Austria. (In press).
34. Kovaleva N. V., Butomo I. V., Prozorova M. V., Shandlorenko S. K., Khitrikova L. E, Pantova I. G. 1997. Mystery of trisomy 21 mosaicism. Cytogenet. Cell Genet. 77 : 80.
35. Ladda R. S., Maisels M. J., Dossett J. H., Dobelle Y. 1997. Chromosomal mosaicism in Down's syndrome: a diagnostic challenge. Develop. Med. Child. Neurol. 19 : 668-172.
36. Lejeune J. 1963. Autosomal disorders. Pediatrics. 32 : 326-337.
37. Mikkelsen M., Poulsen H., Tommerup N. 1989. Genetic risk factors in human trisomy 21. In: Molecular and cytogenetic studies of non-disjunction. New York: Alan R. Liss. 183-197.
38. Mutton D., Avberman E., Hook E. B. 1996. Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989 to 1993. J. Med. Genet. 33 : 387-394.
39. Mydhili C. V. K. 1987. Chromosomal anomalies «Prenatal detection». J. Obstet, and Gynaecol. India. 37 : 648-649.
40. Nelsen K. G., Poulsen H., Mikkelsen M., Steuber E. 1988. Multiple recurrence of trisomy 21 Down syndrome. Hum. Genet. 78 : 103-105.
41. Niikawa N., Kajii T. 1984. The origin of mosaic Down syndrome: four cases with chromosome markers. Amer. J. Hum. Genet. 36 : 123-130.
42. Opheim K. E., Brittingham A., Chapman D., Norwood T. H. 1995. Balanced reciprocal translocation mosaicism: how frequent? Amer. J. Med. Genet. 57 : 601-604.
43. Pangalos C., Avramopoulos D., Blouin J.-L., Raoyl O., Deblois M.-C., Prieur M., Schinzel A. A., Gika M., Abazic D., Antonarakis S. E. 1994. Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. Amer. J. Hum. Genet. 54 : 473-481.
44. Parke J. C., Jr., Grass F. S., Pixley R., Deal J. 1980. Trisomy 21 mosaicims in two successive generations in a family. J. Med. Genet. 17 : 48-49.
45. Pellestor F., Sele B., Jalbert H. 1989. Direct segregation analysis of reciprocal translocation: a study of 283 sperm karyotypes from four carriers. Amer. J. Hum. Genet. 44 : 464-473.
46. Petersen M. D., Antonarakis S. E., Hassold T. J., Freeman S. B., Sherman S. L., Avramopoulos D., Mikkelsen M. 1993. Paternal nondisjunction in trisomy 21: excess of male patients. Hum. Mol. Genet. 2 : 1691-1695.
47. Petersen M. B., Frantzen M., Antonarakis S. E., Warren A. C., Van Broekhoven C., Chakravarti A., Cox T. K., Lund C., Olsen B., Poulsen H., Sand A., Tommerup N., Mikkelsen M. 1992. Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. Amer. J. Hum. Genet. 51 : 516-525.
48. Pierluigi M., Gessaga M., Ferro M. A., Coviello D. A., Strigini P., Dagna Bricarelli F. 1984. Non disguinzione e varianti cromosomiche in genitori con figli Down. In: Sindrome di Down. Genova: Ce. Pi. M. 109-117.
49. Rogan P. K., Close P., Blouin J. L., Seip J. R., Gannutz L., Ladda R. L., Antonarakis S. E. 1995. Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia. Amer. J. Med. Genet. 59 : 174-181.
50. Rousseaux S., Chevret E., Montell M., Cozzi J., Pelleter R., Delafontaine D., Sele B. 1995. Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum. Genet. 96 (6) : 655-660.
51. Sachs E. S., Jahoda M. G. J., Los F. J., Pijpers L., Wladimiroff J. W. 1990. Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Amer. J. Med. Genet. 7 (Suppl.) : 186-188.
52. Savage A. R., Petersen M. B., Pettay D., Taft L., Allran K., Freeman S. B., Karadima G., Avramopoulos D., Torfs C., Mikkelsen M., Hassold T. J., Sherman S. L. 1998. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum. Mol. Genet. 7 : 1221-1227.
53. Schinzel A. A., Adelsberger P. A., Binkert F., Basaran S., Antonarakis S. E. 1992. No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements. Amer. J. Hum. Genet. 50 : 288-293.
54. Schmidt R., Dar H., Nitowsky M. 1981. Dermatoglyphic and cytogenetic studies in parents of children with trisomy 21. Clin. Genet. 20 : 203-210.
55. Staessen C., Maes A. M., Kirsch-Volders M., Susanne C. 1983. Is there a predisposition for meiotic nondisjunction that may be detected by mitotic hyperploidy? Clin. Genet. 24 : 184-190.
56. Stallard R., Haney N., Frank P., Mowrey P., Knops J., Juberg R. C. 1981. Detecting inherent parental tendency to nondisjunction. Amer. J. Genet. 33 : 123A.
57. Stoll C., Alembik Y., Dott B., Roth M. P. 1998. Study of Down syndrome in 238,942 consecutive births. Ann. Genet. 41 : 44-51.
58. Surana R. B., Conen P. E. 1975. Chromosomal studies on young mothers of Down's syndrome. Ped. Res. 9 : 319.
59. Templado K., Navarro J., Benet J. 1988. Human chromosome studies in a reciprocal translocation t(2;5). Hum. Genet. 79 : 24-28.
60. Therman. E., Susman B., Denniston C. 1989. The nonrandom participation of human acrocentric chromosomes in Robersonian translocations. Ann. Hum. Genet. 53 : 49-65.
61. Uchida I. A., Freeman V. C. P. 1985. Trisomy 21 Down syndrome. Hum. Genet. 70 : 246-248.
62. Uchida I. A., Freeman V. C. P. 1986. Trisomy 21 Down syndrome. II. Structural rearrangements in the parents. Hum. Genet. 72 : 118-122.
63. Walker F. A., Ising R. 1969. Mosaic Down's syndrome in a father and daughter. Lancet. 1 : 374.
64. Werner W., Herrmann F. H., 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.
65. Yamamoto M., Ingalls T. H. 1972. Delayed fertilization and chromosome anomalies in the hamster embryo. Science. 176 : 518-521.
66. Zackowski J. L., Newlin A., Leichtman L. G., Neu R. L. 1995. Paracentric inversion of chromosome 1 inherited from a mosaic father. Cytogenet. Cell Genet. 69 : 117A.
67. Zellweger H., Abbo G., Guany R. 1966. Satellite association and translocation mongolism. J. Med. Genet. 3 : 186-188.