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Volumn 11, Issue 6, 2010, Pages 409-419

Germinal and somatic trisomy 21 mosaicism: How common is it, what are the implications for individual carriers and how does it come about?

Author keywords

Alzheimer's disease; Cancer; Childhood leukemia; Fetus; Germ line; Mosaicism; Trisomy 21

Indexed keywords

AGING; ALZHEIMER DISEASE; ARTICLE; CANCER RISK; CHILD; CHROMOSOME 21; DERMATOGLYPHICS; DOWN SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RISK; HETEROZYGOTE; HUMAN; LEUKEMIA; MATERNAL AGE; MOSAICISM; OOCYTE; PREMATURE AGING; SEMEN ANALYSIS; SOLID TUMOR; TESTIS; TRISOMY 21;

EID: 78650018924     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/138920210793176056     Document Type: Article
Times cited : (37)

References (143)
  • 1
    • 77951518762 scopus 로고    scopus 로고
    • Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue
    • Kovaleva, N.V. Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue. Mol. Cytogenet., 2010, 3, 7.
    • (2010) Mol. Cytogenet , vol.3 , pp. 7
    • Kovaleva, N.V.1
  • 2
    • 84922633113 scopus 로고    scopus 로고
    • Fiftieth anniversary of trisomy 21: Returning to a discovery
    • Gautier, M.; Harper, P.S. Fiftieth anniversary of trisomy 21: returning to a discovery. Hum. Genet., 2009, 126, 317-324.
    • (2009) Hum. Genet , vol.126 , pp. 317-324
    • Gautier, M.1    Harper, P.S.2
  • 4
    • 0033183086 scopus 로고    scopus 로고
    • Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome
    • Katznelson, M.B.; Bejerano, M.; Yakovenko, K.; Kobyliansky, E. Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome. Family study. Anthropol. Anz., 1999, 57, 193-255.
    • (1999) Family study. Anthropol. Anz , vol.57 , pp. 193-255
    • Katznelson, M.B.1    Bejerano, M.2    Yakovenko, K.3    Kobyliansky, E.4
  • 5
    • 34547691328 scopus 로고    scopus 로고
    • Models for fingerprint pattern formation
    • Kücken, M. Models for fingerprint pattern formation. Forensic Sci. Int., 2007, 171, 85-96.
    • (2007) Forensic Sci. Int , vol.171 , pp. 85-96
    • Kücken, M.1
  • 8
    • 0001966435 scopus 로고
    • The distal triradius t on the hands of parents and sibs of mongol imbeciles
    • Penrose, L.S. The distal triradius t on the hands of parents and sibs of mongol imbeciles. Ann. Hum. Genet., 1954, 19, 10-38.
    • (1954) Ann. Hum. Genet , vol.19 , pp. 10-38
    • Penrose, L.S.1
  • 11
    • 52949149666 scopus 로고    scopus 로고
    • Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis
    • DeUgarte, C.M.; Li, M.; Surrey, M.; Danzer, H.; Hill, D.; DeCherney, A.H. Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis. Fertil. Steril., 2008, 90, 1049-1054.
    • (2008) Fertil. Steril , vol.90 , pp. 1049-1054
    • Deugarte, C.M.1    Li, M.2    Surrey, M.3    Danzer, H.4    Hill, D.5    Decherney, A.H.6
  • 12
    • 0141613852 scopus 로고    scopus 로고
    • Rapid and simple prenatal diagnosis of common chromosome disorders: Advantages and disadvantages of the molecular methods FISH and QF-PCR
    • Hultén, M.A.; Dhanjal, S.; Pertl, B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction, 2003, 126, 279-297.
    • (2003) Reproduction , vol.126 , pp. 279-297
    • Hultén, M.A.1    Dhanjal, S.2    Pertl, B.3
  • 13
    • 14844290272 scopus 로고    scopus 로고
    • An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics
    • Iourov, I.Y.; Soloviev, I.V.; Vorsanova, S.G.; Monakhov, V.V.; Yurov, Y.B. An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics. J. Histochem. Cytochem., 2005, 53, 401-408.
    • (2005) J. Histochem. Cytochem , vol.53 , pp. 401-408
    • Iourov, I.Y.1    Soloviev, I.V.2    Vorsanova, S.G.3    Monakhov, V.V.4    Yurov, Y.B.5
  • 14
    • 33845646696 scopus 로고    scopus 로고
    • Intercellular Genomic (Chromosomal) Variations Resulting in Somatic Mosaicism: Mechanisms and Consequences
    • Iourov, I.Y.; Vorsanova, S.G.; Yurov, Y.B. Intercellular Genomic (Chromosomal) Variations Resulting in Somatic Mosaicism: Mechanisms and Consequences. Curr. Genomics, 2006, 7, 435-446.
    • (2006) Curr. Genomics , vol.7 , pp. 435-446
    • Iourov, I.Y.1    Vorsanova, S.G.2    Yurov, Y.B.3
  • 16
    • 0038575240 scopus 로고    scopus 로고
    • Down syndrome: A study of chromosomal mosaicism
    • Modi, D.; Berde, P.; Bhartiya, D. Down syndrome: a study of chromosomal mosaicism. Reprod. Biomed. Online, 2003, 6, 499-503.
    • (2003) Reprod. Biomed. Online , vol.6 , pp. 499-503
    • Modi, D.1    Berde, P.2    Bhartiya, D.3
  • 17
    • 0034019909 scopus 로고    scopus 로고
    • Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: Detection by fluorescence in situ hybridization on binucleated lymphocytes
    • Shi, Q.; Adler, I.D.; Zhang, J.; Zhang, X.; Shan, X.; Martin, R. Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes. Hum. Genet., 2000, 106, 29-35.
    • (2000) Hum. Genet , vol.106 , pp. 29-35
    • Shi, Q.1    Adler, I.D.2    Zhang, J.3    Zhang, X.4    Shan, X.5    Martin, R.6
  • 18
    • 0034691841 scopus 로고    scopus 로고
    • Increased nondisjunction of chromosome 21 with age in human peripheral lymphocytes
    • Shi, Q.; Chen, J.; Adler, I.; Zhang, J.; Martin, R.; Pan, S.; Zhang, X.; Shan, X. Increased nondisjunction of chromosome 21 with age in human peripheral lymphocytes. Mutat. Res., 2000, 452, 27-36.
    • (2000) Mutat. Res , vol.452 , pp. 27-36
    • Shi, Q.1    Chen, J.2    Adler, I.3    Zhang, J.4    Martin, R.5    Pan, S.6    Zhang, X.7    Shan, X.8
  • 19
    • 77649292704 scopus 로고    scopus 로고
    • Human interphase chromosomes: A review of available molecular cytogenetic technologies
    • Vorsanova, S.G.; Yurov, Y.B.; Iourov, I.Y. Human interphase chromosomes: a review of available molecular cytogenetic technologies. Mol. Cytogenet., 2010, 3, 1.
    • (2010) Mol. Cytogenet , vol.3 , pp. 1
    • Vorsanova, S.G.1    Yurov, Y.B.2    Iourov, I.Y.3
  • 20
    • 0017347991 scopus 로고
    • Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use
    • Hook, E.B. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am. J. Hum. Genet., 1977, 29, 94-97.
    • (1977) Am. J. Hum. Genet , vol.29 , pp. 94-97
    • Hook, E.B.1
  • 21
    • 0025764513 scopus 로고
    • Chromosome in situ suppression hybridisation in clinical cytogenetics
    • Hultén, M.A.; Gould, C.P.; Goldman, A.S.; Waters, J.J. Chromosome in situ suppression hybridisation in clinical cytogenetics. J. Med. Genet., 1991, 28, 577-582.
    • (1991) J. Med. Genet , vol.28 , pp. 577-582
    • Hultén, M.A.1    Gould, C.P.2    Goldman, A.S.3    Waters, J.J.4
  • 22
    • 34548644872 scopus 로고    scopus 로고
    • Interphase chromosome-specific multicolor banding (ICS-MCB): A new tool for analysis of interphase chromosomes in their integrity
    • Iourov, I.Y.; Liehr, T.; Vorsanova, S.G.; Yurov, Y.B. Interphase chromosome-specific multicolor banding (ICS-MCB): a new tool for analysis of interphase chromosomes in their integrity. Biomol. Eng., 2007, 24, 415-417.
    • (2007) Biomol. Eng , vol.24 , pp. 415-417
    • Iourov, I.Y.1    Liehr, T.2    Vorsanova, S.G.3    Yurov, Y.B.4
  • 25
    • 75149197360 scopus 로고    scopus 로고
    • On the origin of the maternal age effect in trisomy 21 Down syndrome: The Oocyte Mosaicism Selection model
    • Hultén, M.A.; Patel, S.; Jonasson, J.; Iwarsson, E. On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model. Reproduction, 2010, 139, 1-9.
    • (2010) Reproduction , vol.139 , pp. 1-9
    • Hultén, M.A.1    Patel, S.2    Jonasson, J.3    Iwarsson, E.4
  • 28
    • 0031869212 scopus 로고    scopus 로고
    • Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies
    • 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., 1998, 6, 207-212.
    • (1998) Eur. J. Hum. Genet , vol.6 , pp. 207-212
    • James, R.S.1    Ellis, K.2    Pettay, D.3    Jacobs, P.A.4
  • 29
    • 72849149386 scopus 로고    scopus 로고
    • Susceptibility to aneuploidy in young mothers of Down syndrome children
    • Migliore, L.; Migheli, F.; Coppede, F. Susceptibility to aneuploidy in young mothers of Down syndrome children. Scientific World Journal, 2009, 9, 1052-1060.
    • (2009) Scientific World Journal , vol.9 , pp. 1052-1060
    • Migliore, L.1    Migheli, F.2    Coppede, F.3
  • 32
    • 0026752206 scopus 로고
    • The chromosome complement of human gametes
    • Jacobs, P.A. The chromosome complement of human gametes. Oxf. Rev. Reprod. Biol., 1992, 14, 47-72.
    • (1992) Oxf. Rev. Reprod. Biol , vol.14 , pp. 47-72
    • Jacobs, P.A.1
  • 33
    • 26244439317 scopus 로고    scopus 로고
    • Individual variation in the frequency of sperm aneuploidy in humans
    • Rubes, J.; Vozdova, M.; Oracova, E.; Perreault, S.D. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet. Genome Res., 2005, 111, 229-236.
    • (2005) Cytogenet. Genome Res , vol.111 , pp. 229-236
    • Rubes, J.1    Vozdova, M.2    Oracova, E.3    Perreault, S.D.4
  • 34
    • 0036091449 scopus 로고    scopus 로고
    • Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy
    • Rubes, J.; Vozdova, M.; Robbins, W.A.; Rezacova, O.; Perreault, S.D.; Wyrobek, A.J. Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy. Am. J. Hum. Genet., 2002, 70, 1507-1519.
    • (2002) Am. J. Hum. Genet , vol.70 , pp. 1507-1519
    • Rubes, J.1    Vozdova, M.2    Robbins, W.A.3    Rezacova, O.4    Perreault, S.D.5    Wyrobek, A.J.6
  • 35
    • 77949918555 scopus 로고    scopus 로고
    • Role of sperm fluorescent in situ hybridization studies in infertile patients: Indications, study approach, and clinical relevance
    • Sarrate, Z.; Vidal, F.; Blanco, J. Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil. Steril., 2010, 93, 1892-1902.
    • (2010) Fertil. Steril , vol.93 , pp. 1892-1902
    • Sarrate, Z.1    Vidal, F.2    Blanco, J.3
  • 36
    • 0035103765 scopus 로고    scopus 로고
    • Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: Generalized tendency to meiotic non- disjunction
    • Soares, S.R.; Templado, C.; Blanco, J.; Egozcue, J.; Vidal, F. Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalized tendency to meiotic non- disjunction. Hum. Genet., 2001, 108, 134-139.
    • (2001) Hum. Genet , vol.108 , pp. 134-139
    • Soares, S.R.1    Templado, C.2    Blanco, J.3    Egozcue, J.4    Vidal, F.5
  • 37
    • 57849162406 scopus 로고    scopus 로고
    • Intra-individual and inter- individual variations in sperm aneuploidy frequencies in normal men
    • Tempest, H.G.; Ko, E.; Rademaker, A.; Chan, P.; Robaire, B.; Martin, R.H. Intra-individual and inter- individual variations in sperm aneuploidy frequencies in normal men. Fertil. Steril., 2009,91, 185-192.
    • (2009) Fertil. Steril , vol.91 , pp. 185-192
    • Tempest, H.G.1    Ko, E.2    Rademaker, A.3    Chan, P.4    Robaire, B.5    Martin, R.H.6
  • 38
    • 44449111154 scopus 로고    scopus 로고
    • The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men
    • Young, S.S.; Eskenazi, B.; Marchetti, F.M.; Block, G.; Wyrobek, A.J. The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men. Hum. Re- prod., 2008, 23, 1014-1022.
    • (2008) Hum. Re- Prod , vol.23 , pp. 1014-1022
    • Young, S.S.1    Eskenazi, B.2    Marchetti, F.M.3    Block, G.4    Wyrobek, A.J.5
  • 41
    • 67651036860 scopus 로고    scopus 로고
    • Aneuploidy: From a physiological mechanism of variance to Down syndrome
    • Dierssen, M.; Herault, Y.; Estivill, X. Aneuploidy: from a physiological mechanism of variance to Down syndrome. Physiol. Rev., 2009, 89, 887-920.
    • (2009) Physiol. Rev , vol.89 , pp. 887-920
    • Dierssen, M.1    Herault, Y.2    Estivill, X.3
  • 43
    • 67651124806 scopus 로고    scopus 로고
    • Molecular genetic analysis of Down syndrome
    • Patterson, D. Molecular genetic analysis of Down syndrome. Hum. Genet., 2009, 126, 195-214.
    • (2009) Hum. Genet , vol.126 , pp. 195-214
    • Patterson, D.1
  • 48
    • 77649208355 scopus 로고    scopus 로고
    • Survival of children with mosaic Down syndrome
    • Shin, M.; Siffel, C.; Correa, A. Survival of children with mosaic Down syndrome. Am. J. Med. Genet. A, 2010, 152A, 800-801.
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 800-801
    • Shin, M.1    Siffel, C.2    Correa, A.3
  • 49
    • 52849114345 scopus 로고    scopus 로고
    • Hydrops fetalis, thickened placenta and other sonographic findings in a low-level trisomy 21 mosaicism: A case report
    • Sifakis, S.; Koukoura, O.; Mantas, N.; Velissariou, V.; Koumantakis, E. Hydrops fetalis, thickened placenta and other sonographic findings in a low-level trisomy 21 mosaicism: a case report. Fetal. Diagn. Ther., 2008, 24, 310-312.
    • (2008) Fetal. Diagn. Ther , vol.24 , pp. 310-312
    • Sifakis, S.1    Koukoura, O.2    Mantas, N.3    Velissariou, V.4    Koumantakis, E.5
  • 50
    • 9644260618 scopus 로고    scopus 로고
    • Mosaic Down's syndrome prevalence in a complete population study
    • Devlin, L.; Morrison, P.J. Mosaic Down's syndrome prevalence in a complete population study. Arch. Dis. Child., 2004, 89, 1177-1178.
    • (2004) Arch. Dis. Child , vol.89 , pp. 1177-1178
    • Devlin, L.1    Morrison, P.J.2
  • 51
    • 72849129177 scopus 로고    scopus 로고
    • GIN'n'CIN hypothesis of brain aging: Deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny
    • Yurov, Y.B.; Vorsanova, S.G.; Iourov, I.Y. GIN'n'CIN hypothesis of brain aging: deciphering the role of somatic genetic instabilities and neural aneuploidy during ontogeny. Mol. Cytogenet., 2009, 2, 23.
    • (2009) Mol. Cytogenet , vol.2 , pp. 23
    • Yurov, Y.B.1    Vorsanova, S.G.2    Iourov, I.Y.3
  • 52
    • 33646505523 scopus 로고    scopus 로고
    • Increased prevalence of Down's syndrome in individuals with type 1 diabetes in Denmark: A nationwide population-based study
    • Bergholdt, R.; Eising, S.; Nerup, J.; Pociot, F. Increased prevalence of Down's syndrome in individuals with type 1 diabetes in Denmark: A nationwide population-based study. Diabetologia, 2006, 49, 1179-1182.
    • (2006) Diabetologia , vol.49 , pp. 1179-1182
    • Bergholdt, R.1    Eising, S.2    Nerup, J.3    Pociot, F.4
  • 53
    • 77951437650 scopus 로고    scopus 로고
    • Both normal memory counts and decreased naive cells favor intrinsic defect over early senescence of Down syndrome Tlymphocytes
    • Kusters, M.A.; Gemen, E.F.; Verstegen, R.H.; Wever, P.C.; de Vries, E. Both normal memory counts and decreased naive cells favor intrinsic defect over early senescence of Down syndrome Tlymphocytes. Pediatr. Res., 2010.
    • (2010) Pediatr. Res
    • Kusters, M.A.1    Gemen, E.F.2    Verstegen, R.H.3    Wever, P.C.4    de Vries, E.5
  • 54
    • 77952020384 scopus 로고    scopus 로고
    • The role of chromosome 21 in hematology and oncology
    • [Epub ahead of print]
    • Fonatsch, C. The role of chromosome 21 in hematology and oncology. Genes Chromosomes Cancer, 2010, [Epub ahead of print].
    • (2010) Genes Chromosomes Cancer
    • Fonatsch, C.1
  • 55
    • 64149129804 scopus 로고    scopus 로고
    • Malignancy in children with trisomy 21
    • Rabin, K.R.; Whitlock, J.A. Malignancy in children with trisomy 21. Oncologist, 2009, 14, 164-173.
    • (2009) Oncologist , vol.14 , pp. 164-173
    • Rabin, K.R.1    Whitlock, J.A.2
  • 56
    • 70249148677 scopus 로고    scopus 로고
    • Down syndrome and malignancies: A unique clinical relationship: A paper from the 2008 william beaumont hospital symposium on molecular pathology
    • Xavier, A.C.; Ge, Y.; Taub, J.W. Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology. J. Mol. Diagn., 2009, 11, 371-380.
    • (2009) J. Mol. Diagn , vol.11 , pp. 371-380
    • Xavier, A.C.1    Ge, Y.2    Taub, J.W.3
  • 59
    • 58549100295 scopus 로고    scopus 로고
    • Genetic susceptibility to childhood leukaemia. Radiat
    • Chokkalingam, A.P.; Buffler, P.A. Genetic susceptibility to childhood leukaemia. Radiat. Prot. Dosimetry, 2008, 132, 119-129.
    • (2008) Prot. Dosimetry , vol.132 , pp. 119-129
    • Chokkalingam, A.P.1    Buffler, P.A.2
  • 60
    • 63149148209 scopus 로고    scopus 로고
    • Constitutional aneuploidy and cancer predisposition
    • Ganmore, I.; Smooha, G.; Izraeli, S. Constitutional aneuploidy and cancer predisposition. Hum. Mol. Genet., 2009, 18, R84-93.
    • (2009) Hum. Mol. Genet , vol.18
    • Ganmore, I.1    Smooha, G.2    Izraeli, S.3
  • 62
    • 84886341711 scopus 로고    scopus 로고
    • Acute myeloid leukemia
    • 3rd ed.; Heim, S.; Mitelman, F., Eds. Wiley-Blackwell: Hoboken
    • Johansson, B.; Harrison, C.J., Acute myeloid leukemia. In: Cancer Cytogenetics, 3rd ed.; Heim, S.; Mitelman, F., Eds. Wiley-Blackwell: Hoboken, 2009; pp 45-139.
    • (2009) Cancer Cytogenetics , pp. 45-139
    • Johansson, B.1    Harrison, C.J.2
  • 63
    • 33749252172 scopus 로고    scopus 로고
    • High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: A Nordic series of cases diagnosed 1989-2005
    • Karrman, K.; Forestier, E.; Andersen, M.K.; Autio, K.; Borgstrom, G.; Heim, S.; Heinonen, K.; Hovland, R.; Kerndrup, G.; Johansson, B. High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005. Br. J. Haematol., 2006, 135, 352-354.
    • (2006) Br. J. Haematol , vol.135 , pp. 352-354
    • Karrman, K.1    Forestier, E.2    Andersen, M.K.3    Autio, K.4    Borgstrom, G.5    Heim, S.6    Heinonen, K.7    Hovland, R.8    Kerndrup, G.9    Johansson, B.10
  • 67
    • 63149148538 scopus 로고    scopus 로고
    • Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome
    • Malinge, S.; Izraeli, S.; Crispino, J.D. Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome. Blood, 2009, 113, 2619-2628.
    • (2009) Blood , vol.113 , pp. 2619-2628
    • Malinge, S.1    Izraeli, S.2    Crispino, J.D.3
  • 70
    • 34147153999 scopus 로고    scopus 로고
    • Genetic abnormalities involved in t(12;21) TELAML1 acute lymphoblastic leukemia: Analysis by means of arraybased comparative genomic hybridization
    • Tsuzuki, S.; Karnan, S.; Horibe, K.; Matsumoto, K.; Kato, K.; Inukai, T.; Goi, K.; Sugita, K.; Nakazawa, S.; Kasugai, Y.; Ueda, R.; Seto, M. Genetic abnormalities involved in t(12;21) TELAML1 acute lymphoblastic leukemia: analysis by means of arraybased comparative genomic hybridization. Cancer Sci., 2007, 98, 698-706.
    • (2007) Cancer Sci , vol.98 , pp. 698-706
    • Tsuzuki, S.1    Karnan, S.2    Horibe, K.3    Matsumoto, K.4    Kato, K.5    Inukai, T.6    Goi, K.7    Sugita, K.8    Nakazawa, S.9    Kasugai, Y.10    Ueda, R.11    Seto, M.12
  • 77
    • 0031471132 scopus 로고    scopus 로고
    • Backtracking leukemia to birth: Identification of clonotypic gene fusion sequences in neonatal blood spots
    • Gale, K.B.; Ford, A.M.; Repp, R.; Borkhardt, A.; Keller, C.; Eden, O.B.; Greaves, M.F. Backtracking leukemia to birth: identification of clonotypic gene fusion sequences in neonatal blood spots. Proc. Natl. Acad. Sci. USA, 1997, 94, 13950-13954.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 13950-13954
    • Gale, K.B.1    Ford, A.M.2    Repp, R.3    Borkhardt, A.4    Keller, C.5    Eden, O.B.6    Greaves, M.F.7
  • 78
    • 51649089534 scopus 로고    scopus 로고
    • Prenatal origin of childhood acute lymphoblastic leukemia, association with birth weight and hyperdiploidy
    • Gruhn, B.; Taub, J.W.; Ge, Y.; Beck, J.F.; Zell, R.; Hafer, R.; Hermann, F.H.; Debatin, K.M.; Steinbach, D. Prenatal origin of childhood acute lymphoblastic leukemia, association with birth weight and hyperdiploidy. Leukemia, 2008, 22, 1692-1697.
    • (2008) Leukemia , vol.22 , pp. 1692-1697
    • Gruhn, B.1    Taub, J.W.2    Ge, Y.3    Beck, J.F.4    Zell, R.5    Hafer, R.6    Hermann, F.H.7    Debatin, K.M.8    Steinbach, D.9
  • 79
    • 23044487167 scopus 로고    scopus 로고
    • GATA1 mutation analysis demonstrates two distinct primary leukemias in a child with down syndrome; implications for leukemogenesis
    • Hellebostad, M.; Carpenter, E.; Hasle, H.; Mitchell, C.; Vyas, P. GATA1 mutation analysis demonstrates two distinct primary leukemias in a child with down syndrome; implications for leukemogenesis. J. Pediatr. Hematol. Oncol., 2005, 27, 408-409.
    • (2005) J. Pediatr. Hematol. Oncol , vol.27 , pp. 408-409
    • Hellebostad, M.1    Carpenter, E.2    Hasle, H.3    Mitchell, C.4    Vyas, P.5
  • 82
    • 58549105349 scopus 로고    scopus 로고
    • Aetiology of childhood acute leukaemias: Current status of knowledge
    • Rossig, C.; Juergens, H. Aetiology of childhood acute leukaemias: current status of knowledge. Radiat. Prot. Dosimetry, 2008, 132, 114-118.
    • (2008) Radiat. Prot Dosimetry , vol.132 , pp. 114-118
    • Rossig, C.1    Juergens, H.2
  • 83
    • 65649098700 scopus 로고    scopus 로고
    • Backtracking of leukemic clones to birth. Methods
    • Wiemels, J.; Kang, M.; Greaves, M. Backtracking of leukemic clones to birth. Methods Mol. Biol., 2009, 538, 7-27.
    • (2009) Mol. Biol , vol.538 , pp. 7-27
    • Wiemels, J.1    Kang, M.2    Greaves, M.3
  • 85
    • 38049069895 scopus 로고    scopus 로고
    • Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome
    • Sussan, T.E.; Yang, A.; Li, F.; Ostrowski, M.C.; Reeves, R.H. Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. Nature, 2008, 451, 73-75.
    • (2008) Nature , vol.451 , pp. 73-75
    • Sussan, T.E.1    Yang, A.2    Li, F.3    Ostrowski, M.C.4    Reeves, R.H.5
  • 86
    • 38049038499 scopus 로고    scopus 로고
    • Down's syndrome: Paradox of a tumour repressor
    • Threadgill, D.W. Down's syndrome: paradox of a tumour repressor. Nature, 2008, 451, 21-22.
    • (2008) Nature , vol.451 , pp. 21-22
    • Threadgill, D.W.1
  • 87
    • 46949097704 scopus 로고    scopus 로고
    • Methylation-mediated downregulation of the B-cell translocation gene 3 (BTG3) in breast cancer cells
    • Yu, J.; Zhang, Y.; Qi, Z.; Kurtycz, D.; Vacano, G.; Patterson, D. Methylation-mediated downregulation of the B-cell translocation gene 3 (BTG3) in breast cancer cells. Gene Expr., 2008, 14, 173-182.
    • (2008) Gene Expr , vol.14 , pp. 173-182
    • Yu, J.1    Zhang, Y.2    Qi, Z.3    Kurtycz, D.4    Vacano, G.5    Patterson, D.6
  • 91
    • 75649131127 scopus 로고    scopus 로고
    • Down's syndrome: Protection against cancer and the therapeutic potential of DSCR1
    • Ryeom, S.; Baek, K.H.; Zaslavsky, A. Down's syndrome: protection against cancer and the therapeutic potential of DSCR1. Future Oncol., 2009, 5, 1185-1188.
    • (2009) Future Oncol , vol.5 , pp. 1185-1188
    • Ryeom, S.1    Baek, K.H.2    Zaslavsky, A.3
  • 92
    • 33644872564 scopus 로고    scopus 로고
    • Cancer incidence of persons with Down syndrome in Finland: A population-based study. mnt
    • Patja, K.; Pukkala, E.; Sund, R.; Iivanainen, M.; Kaski, M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. mnt. J. Cancer, 2006, 118, 1769-1772.
    • (2006) J. Cancer , vol.118 , pp. 1769-1772
    • Patja, K.1    Pukkala, E.2    Sund, R.3    Iivanainen, M.4    Kaski, M.5
  • 93
    • 69949159612 scopus 로고    scopus 로고
    • Testicular dysgenesis syndrome: Foetal origin of adult reproductive problems
    • Wohlfahrt-Veje, C.; Main, K.M.; Skakkebaek, N.E. Testicular dysgenesis syndrome: foetal origin of adult reproductive problems. Clin. Endocrinol. (Oxf), 2009, 71, 459-465.
    • (2009) Clin. Endocrinol. (Oxf) , vol.71 , pp. 459-465
    • Wohlfahrt-Veje, C.1    Main, K.M.2    Skakkebaek, N.E.3
  • 94
    • 0037160991 scopus 로고    scopus 로고
    • Mortality associated with Down's syndrome in the USA from 1983 to 1997: A population-based study
    • Yang, Q.; Rasmussen, S.A.; Friedman, J.M. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet, 2002, 359, 1019-1025.
    • (2002) Lancet , vol.359 , pp. 1019-1025
    • Yang, Q.1    Rasmussen, S.A.2    Friedman, J.M.3
  • 95
    • 58849118590 scopus 로고    scopus 로고
    • Toward a genetics of cancer resistance
    • Klein, G. Toward a genetics of cancer resistance. Proc. Natl. Acad. Sci. USA, 2009, 106, 859-863.
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 859-863
    • Klein, G.1
  • 96
    • 77951793467 scopus 로고    scopus 로고
    • Vekemans, M. [Trisomy 21: Fifty years between medicine and science]
    • Turleau, C.; Vekemans, M. [Trisomy 21: fifty years between medicine and science]. Med. Sci. (Paris), 2010, 26, 267-272.
    • (2010) Med. Sci. (Paris) , vol.26 , pp. 267-272
    • Turleau, C.1
  • 99
    • 0025801967 scopus 로고
    • Review and hypothesis: Alzheimer disease and Down syndrome-chromosome 21 nondisjunction may underlie both disorders
    • Potter, H. Review and hypothesis: Alzheimer disease and Down syndrome-chromosome 21 nondisjunction may underlie both disorders. Am. J. Hum. Genet., 1991, 48, 1192-1200.
    • (1991) Am. J. Hum. Genet , vol.48 , pp. 1192-1200
    • Potter, H.1
  • 100
    • 77954552201 scopus 로고    scopus 로고
    • Evidence Linking Genetics, Environment, and Epigenetics to Impaired DNA Repair in Alzheimer's Disease
    • Coppedè, F.; Migliore, L. Evidence Linking Genetics, Environment, and Epigenetics to Impaired DNA Repair in Alzheimer's Disease. J. Alzheimers Dis., 2010.
    • (2010) J. Alzheimers Dis
    • Coppedè, F.1    Migliore, L.2
  • 102
    • 76649129325 scopus 로고    scopus 로고
    • Alzheimer Abeta peptide induces chromosome missegregation and aneuploidy, including trisomy 21: Requirement for tau and APP
    • Granic, A.; Padmanabhan, J.; Norden, M.; Potter, H. Alzheimer Abeta peptide induces chromosome missegregation and aneuploidy, including trisomy 21: requirement for tau and APP. Mol. Biol. Cell, 2010, 21, 511-520.
    • (2010) Mol. Biol. Cell , vol.21 , pp. 511-520
    • Granic, A.1    Padmanabhan, J.2    Norden, M.3    Potter, H.4
  • 104
    • 33947138841 scopus 로고    scopus 로고
    • The dysregulation of the cell cycle and the diagnosis of Alzheimer's disease
    • Nagy, Z. The dysregulation of the cell cycle and the diagnosis of Alzheimer's disease. Biochim. Biophys. Acta, 2007, 1772, 402-408.
    • (2007) Biochim. Biophys. Acta , vol.1772 , pp. 402-408
    • Nagy, Z.1
  • 106
    • 0033399922 scopus 로고    scopus 로고
    • Preferential occurrence of chromosome 21 malsegregation in peripheral blood lymphocytes of Alzheimer disease patients
    • Migliore, L.; Botto, N.; Scarpato, R.; Petrozzi, L.; Cipriani, G.; Bonuccelli, U. Preferential occurrence of chromosome 21 malsegregation in peripheral blood lymphocytes of Alzheimer disease patients. Cytogenet. Cell. Genet., 1999, 87, 41-46.
    • (1999) Cytogenet. Cell. Genet , vol.87 , pp. 41-46
    • Migliore, L.1    Botto, N.2    Scarpato, R.3    Petrozzi, L.4    Cipriani, G.5    Bonuccelli, U.6
  • 107
    • 0031447765 scopus 로고    scopus 로고
    • Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease
    • Migliore, L.; Testa, A.; Scarpato, R.; Pavese, N.; Petrozzi, L.; Bonuccelli, U. Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease. Hum. Genet., 1997, 101, 299-305.
    • (1997) Hum. Genet , vol.101 , pp. 299-305
    • Migliore, L.1    Testa, A.2    Scarpato, R.3    Pavese, N.4    Petrozzi, L.5    Bonuccelli, U.6
  • 109
    • 37649016158 scopus 로고    scopus 로고
    • Down's syndrome and Alzheimer's disease: Two sides of the same coin
    • Potter, H. Down's syndrome and Alzheimer's disease: two sides of the same coin. Future Neurol., 2008, 3, 29-37.
    • (2008) Future Neurol , vol.3 , pp. 29-37
    • Potter, H.1
  • 110
    • 0034919492 scopus 로고    scopus 로고
    • Spontaneous and induced chromosome damage in somatic cells of sporadic and familial Alzheimer's disease patients
    • Trippi, F.; Botto, N.; Scarpato, R.; Petrozzi, L.; Bonuccelli, U.; Latorraca, S.; Sorbi, S.; Migliore, L. Spontaneous and induced chromosome damage in somatic cells of sporadic and familial Alzheimer's disease patients. Muta genesis, 2001, 16, 323-327.
    • (2001) Muta Genesis , vol.16 , pp. 323-327
    • Trippi, F.1    Botto, N.2    Scarpato, R.3    Petrozzi, L.4    Bonuccelli, U.5    Latorraca, S.6    Sorbi, S.7    Migliore, L.8
  • 111
    • 0017734459 scopus 로고
    • The genetics of Alzheimer's disease: Associations with hematologic malignancy and Down's syndrome
    • Heston, L.L.; Mastri, A.R. The genetics of Alzheimer's disease: associations with hematologic malignancy and Down's syndrome. Arch. Gen. Psychiatry, 1977, 34, 976-981.
    • (1977) Arch. Gen. Psychiatry , vol.34 , pp. 976-981
    • Heston, L.L.1    Mastri, A.R.2
  • 112
    • 0019402114 scopus 로고
    • Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions
    • Heston, L.L.; Mastri, A.R.; Anderson, V.E.; White, J. Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions. Arch. Gen. Psychiatry, 1981, 38, 1085-1090.
    • (1981) Arch. Gen. Psychiatry , vol.38 , pp. 1085-1090
    • Heston, L.L.1    Mastri, A.R.2    Anderson, V.E.3    White, J.4
  • 115
    • 64449088956 scopus 로고    scopus 로고
    • Aneuploidy in the normal, Alzheimer's disease and ataxiatelangiectasia brain: Differential expression and pathological meaning
    • Iourov, I.Y.; Vorsanova, S.G.; Liehr, T.; Yurov, Y.B. Aneuploidy in the normal, Alzheimer's disease and ataxiatelangiectasia brain: differential expression and pathological meaning. Neurobiol. Dis.,2009, 34, 212-220.
    • (2009) Neurobiol. Dis , vol.34 , pp. 212-220
    • Iourov, I.Y.1    Vorsanova, S.G.2    Liehr, T.3    Yurov, Y.B.4
  • 119
    • 0027447719 scopus 로고
    • Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age
    • Antonarakis, S.E.; Avramopoulos, D.; Blouin, J.L.; Talbot, C.C., Jr.; Schinzel, A.A. Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nat. Genet., 1993, 3, 146-150.
    • (1993) Nat. Genet , vol.3 , pp. 146-150
    • Antonarakis, S.E.1    Avramopoulos, D.2    Blouin, J.L.3    Talbot Jr., C.C.4    Schinzel, A.A.5
  • 121
    • 24944433962 scopus 로고    scopus 로고
    • Chromosome 21 mosaic human preimplantation embryos predominantly arise from diploid conceptions
    • Katz-Jaffe, M.G.; Trounson, A.O.; Cram, D.S. Chromosome 21 mosaic human preimplantation embryos predominantly arise from diploid conceptions. Fertil. Steril., 2005, 84, 634-643.
    • (2005) Fertil. Steril , vol.84 , pp. 634-643
    • Katz-Jaffe, M.G.1    Trounson, A.O.2    Cram, D.S.3
  • 123
    • 33646062895 scopus 로고    scopus 로고
    • Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB)
    • Iourov, I.Y.; Liehr, T.; Vorsanova, S.G.; Kolotii, A.D.; Yurov, Y.B. Visualization of interphase chromosomes in postmitotic cells of the human brain by multicolour banding (MCB). Chromosome Res., 2006, 14, 223-229.
    • (2006) Chromosome Res , vol.14 , pp. 223-229
    • Iourov, I.Y.1    Liehr, T.2    Vorsanova, S.G.3    Kolotii, A.D.4    Yurov, Y.B.5
  • 125
    • 33750414558 scopus 로고    scopus 로고
    • A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements
    • Engel, E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur. J. Hum. Genet., 2006, 14, 1158-1169.
    • (2006) Eur. J. Hum. Genet , vol.14 , pp. 1158-1169
    • Engel, E.1
  • 127
    • 77950944313 scopus 로고    scopus 로고
    • Cytogenetic contribution to uniparental disomy (UPD)
    • Liehr, T. Cytogenetic contribution to uniparental disomy (UPD). Mol. Cytogenet., 2010, 3, 8.
    • (2010) Mol. Cytogenet , vol.3 , pp. 8
    • Liehr, T.1
  • 130
    • 53349098834 scopus 로고    scopus 로고
    • Space-time analysis of Down syndrome: Results consistent with transient pre-disposing contagious agent
    • McNally, R.J.; Rankin, J.; Shirley, M.D.; Rushton, S.P.; Pless-Mulloli, T. Space-time analysis of Down syndrome: results consistent with transient pre-disposing contagious agent. Int. J. Epidemiol., 2008, 37, 1169-1179.
    • (2008) Int. J. Epidemiol , vol.37 , pp. 1169-1179
    • McNally, R.J.1    Rankin, J.2    Shirley, M.D.3    Rushton, S.P.4    Pless-Mulloli, T.5
  • 131
    • 53349152880 scopus 로고    scopus 로고
    • Commentary: Clustering in Down syndrome
    • Morris, J.K. Commentary: Clustering in Down syndrome. Int. J. Epidemiol., 2008, 37, 1179-1180.
    • (2008) Int. J. Epidemiol , vol.37 , pp. 1179-1180
    • Morris, J.K.1
  • 134
    • 0005145759 scopus 로고
    • Mosaicism in a mother with a mongol child
    • Blank, C.E.; Gemmell, E.; Casey, M.D.; Lord, M. Mosaicism in a mother with a mongol child. Br. Med. J., 1962, 2, 378-380.
    • (1962) Br. Med. J , vol.2 , pp. 378-380
    • Blank, C.E.1    Gemmell, E.2    Casey, M.D.3    Lord, M.4
  • 135
    • 0013582480 scopus 로고
    • 21-trisomy/normal mosaicism in an intelligent child with some mongoloid characters
    • Clarke, C.M.; Edwards, J.H.; Smallpeice, V. 21-trisomy/normal mosaicism in an intelligent child with some mongoloid characters. Lancet, 1961, 277, 1028-1030.
    • (1961) Lancet , vol.277 , pp. 1028-1030
    • Clarke, C.M.1    Edwards, J.H.2    Smallpeice, V.3
  • 136
    • 50549190874 scopus 로고
    • Mosaicism involving the auto- some associated with mongolism
    • Fitzgerald, P.H.; Lycette, R.R. Mosaicism involving the auto- some associated with mongolism. Lancet, 1961, 278, 212.
    • (1961) Lancet , vol.278 , pp. 212
    • Fitzgerald, P.H.1    Lycette, R.R.2
  • 137
    • 50549184591 scopus 로고
    • A case of mosaicism in mongolism
    • Hayashi, T.; Hsu, T.C.; Chao, D. A case of mosaicism in mongolism Lancet, 1962, 279, 218-219.
    • (1962) Lancet , vol.279 , pp. 218-219
    • Hayashi, T.1    Hsu, T.C.2    Chao, D.3
  • 139
    • 50549175106 scopus 로고
    • Mosaicism in a mongol
    • Richards, B.W.; Stewart, A. Mosaicism in a mongol. Lancet, 1962, 279, 275-276.
    • (1962) Lancet , vol.279 , pp. 275-276
    • Richards, B.W.1    Stewart, A.2
  • 140
    • 0025928165 scopus 로고
    • Dermatoglyphics and acute lymphocytic leukemia in children
    • Edelstein, J.; Amylon, M.; Walsh, J.A. Dermatoglyphics and acute lymphocytic leukemia in children. J. Pediatr. Oncol. Nurs., 1991, 8, 30-38.
    • (1991) J. Pediatr. Oncol. Nurs , vol.8 , pp. 30-38
    • Edelstein, J.1    Amylon, M.2    Walsh, J.A.3
  • 142
    • 0034713170 scopus 로고    scopus 로고
    • Follicle dynamics during ovarian ageing
    • Faddy, M.J. Follicle dynamics during ovarian ageing. Mol. Cell. Endocrinol., 2000, 163, 43-48.
    • (2000) Mol. Cell. Endocrinol , vol.163 , pp. 43-48
    • Faddy, M.J.1
  • 143
    • 0036227897 scopus 로고    scopus 로고
    • Revised estimates of the maternal age specific live birth prevalence of Down's syndrome
    • Morris, J.K.; Mutton, D.E.; Alberman, E. Revised estimates of the maternal age specific live birth prevalence of Down's syndrome. J. Med. Screen., 2002, 9, 2-6.
    • (2002) J. Med. Screen , vol.9 , pp. 2-6
    • Morris, J.K.1    Mutton, D.E.2    Alberman, E.3


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