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Chromosomopathien

  • Chapter
Monogen bedingte Erbkrankheiten 2

Part of the book series: Handbuch der Molekularen Medizin ((HDBMOLEK,volume 7))

Zusammenfassung

Die Darstellung der ersten menschlichen Chromosomen reicht bereits in das vergangene Jahrhundert zurück, aber erst im Jahr 1956 konnte die genaue Diploidzahl mit 2 n = 46 bestimmt werden. Inzwischen gilt, dass von keiner Spezies mehr Chromosomenanalysen durchgeführt wurden als vom Menschen. Allein in Deutschland dürften es jßhrlich mehr als 100000 Untersuchungen sein. Die Entwicklung der Humanzytogenetik ist damit ein Beispiel für die enge Verknüpfung von methodischem und wissenschaftlichem Fortschritt. Heute ist es sogar möglich, im Lichtmikroskop durch die Technik der In-situ-Hybridisierung einzelne Gene und sogar Basenaustausche nachzuweisen, wodurch die Zytogenetik unmittelbaren Anschluss an die molekulare Genetik bzw. die molekulare Medizin gewonnen hat.

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Literatur

  • Angell R.R., Xian J., Keith J., Ledger W., Baird D.T. (1994) First meiotic division abnormalities in human oocytes: mechanism of trisomy formation. Cytogenet Cell Genet 65:194–202

    Article  PubMed  CAS  Google Scholar 

  • Antonarakis S.E. (1993) Human chromosome 21: genome mapping and exploration, circa 1993. Trends Genet 9:142–148

    Article  PubMed  CAS  Google Scholar 

  • Antonarakis S.E. (1998) 10 years of genomics, chromosome 21, and Down syndrome. Genomics 51:1–16

    Article  PubMed  CAS  Google Scholar 

  • Assoian R.K., Zhu X. (1997) Cell anchorage and the cytoskeleton as partners in growth factor dependent cell cycle progression. Curr Opin Cell Biol 9:93–98

    Article  PubMed  CAS  Google Scholar 

  • Ballabio A. (1991) Contiguous deletion syndromes. Curr Opin Genet Dev 1:25–29

    Article  PubMed  CAS  Google Scholar 

  • Bedell M.A., Jenkins N.A., Copeland N.G. (1996) Good genes in bad neighbourhoods. Nat Genet 12:229–232

    Article  PubMed  CAS  Google Scholar 

  • Berufsverband Medizinische Genetik e. V. (1990) Richtlinien zur Durchführung zytogenetischer Diagnostik. Med Genet 2:4–6

    Google Scholar 

  • Berufsverband Medizinische Genetik e. V. (1997) Leitlinien zur zytogenetischen Labordiagnostik. Med Genet 9:560–561

    Google Scholar 

  • Brannan C.I., Martolomei M.S. (1999) Mechanisms of genomic imprinting. Curr Opin Genet Dev 9:164–170

    Article  PubMed  CAS  Google Scholar 

  • Brockdorff N. (1998) The role of Xist in X-inactivation. Curr Opin Genet Dev 8:328–333

    Article  PubMed  CAS  Google Scholar 

  • Chandley A.C. (1991) On the parental origin of de novo mutation in man. J Med Genet 28:217–223

    Article  PubMed  CAS  Google Scholar 

  • Clarke D.J., Gimenez-Abüin J.F., Tönnies H. et al. (1998) Creation of monosomic derivates of human cultured cell lines. Proc Natl Acad Sci USA 95:167–171

    CAS  Google Scholar 

  • Cockell M., Gasser S.M. (1999) Nuclear compartments and gene regulation. Curr Opin Genet Dev 9:199–205

    Article  PubMed  CAS  Google Scholar 

  • Craig J.M., Bickmore W.A. (1993) Chromosome bands-flavours to savour. BioEssays 15:349–354

    Article  PubMed  CAS  Google Scholar 

  • Czeizel A.E., Elek C., Gundy S. et al. (1993) Environmental trichlorfon and cluster of congenital abnormalities. Lancet 341:539–42

    Article  PubMed  CAS  Google Scholar 

  • Delhanty J.D., Harper J.C., Ao A., Handyside A.H., Winston R.M. (1997) Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 99:755–760

    Article  PubMed  CAS  Google Scholar 

  • Dobie K., Mehtali M., McClenaghan M., Lathe R. (1997) Variegated gene expression in mice. Trends Genet 13:128–129

    Article  Google Scholar 

  • Engel E. (1998) Uniparental disomies in unselected populations. Am J Hum Genet 63:962–966

    Article  PubMed  CAS  Google Scholar 

  • Feinberg A.P. (1998) Genomic imprinting and cancer. In: Vogeistein B., Kinzier K.W. (eds) The genetic basis of human cancer. McGraw-Hill, New York, pp 95–108

    Google Scholar 

  • Forozan F., Karhu R., Kononen J., Kallioniemi A., Kallioniemi O-P. (1997) Genome screening by comparative genomic hybridization. Trends Genet 13:405–409

    Article  PubMed  CAS  Google Scholar 

  • Fryns J.P., Kleczkowska A., Kubien E., Van den Berghe H. (1995) XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. Genet Couns 6:197–206

    PubMed  CAS  Google Scholar 

  • Giltay J.C., Brunt T., Beemer F.A. et al. (1998) Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite. Am J Hum Genet 62:937–940

    Article  PubMed  CAS  Google Scholar 

  • Graves J.A.M., Wakefield M.J., Toder R. (1998) The origiil and evolution of the pseudoautosomal regions of human sex chromosomoes. Hum Mol Genet 7:1991–1996

    Article  PubMed  CAS  Google Scholar 

  • Gropp A. (1982) Value of an animal model for trisomy. Virchows Arch 395:117–131

    CAS  Google Scholar 

  • Handyside A.H., Delhanty J.D.A. (1997) Preimplantation genetic diagnosis: strategies and surprises. Trends Genet 13:270–275

    Article  PubMed  CAS  Google Scholar 

  • Happle R. (1998) Manifestation genetischer Mosaike in der menschlichen Haut. In: Parthier B. (Hrsg) Jahrbuch 1997 der Deutschen Akademie der Naturforscher, Reihe 3, Jahrgang 43. Leopoldina, Halle/Saale, S 307–334

    Google Scholar 

  • Hassold T.J. (1986) Chromosome abnormalities in human reproductive wastage. Trends Genet 2:105–110

    Article  Google Scholar 

  • Hassold T.J. (1999) The incidence and origin of human trisornies. In: Hassold T.J., Patterson D. (eds) Down syndrome. A promising future, together. Wiley-Liss, John Wiley & Sons, New York, pp 67–74

    Google Scholar 

  • Hassold T., Hunt P.A., Sherman S. (1993) Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev 3:398–403

    Article  PubMed  CAS  Google Scholar 

  • Hassold T., Abruzzo M., Adkins K. et al. (1996) Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen 28:167–175

    Article  PubMed  CAS  Google Scholar 

  • Held K.R., Kerber S., Kaminsky E. et al. (1992) Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 88:288–294

    Article  PubMed  CAS  Google Scholar 

  • Holmquist G.P. (1992) Chromosome bands, their chromatin flavors, and their functional features. Am J Hum Genet 51:17–37

    PubMed  CAS  Google Scholar 

  • Hook E.B. (1992) Chromosome abnormalities: prevalence, risks and recurrence. In: Brock J.H., Rodeck C.H., Ferguson-Smith M.A., Weatherall D.J. (eds) Prenatal diagnosis and screening. Churchill Livingstone, Edinburgh London New York, pp 351–392

    Google Scholar 

  • Hurst L.D., McVean G.T. (1997) Growth effects of uniparental disomies and the conflict theory of genomic imprinting. Trends Genet 13:436–443

    Article  PubMed  CAS  Google Scholar 

  • Jacobs P.A., Matsuyama A.M., Buchanan I.M., Wilson C. (1979) Late replicating X-chromosomes in human triploidy. Am J Hum Genet 31:446–457

    PubMed  CAS  Google Scholar 

  • Jacobs P.A., Szulman A.E., Funkhouser J., Matsuura J.S., Wilson C.C. (1982) Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet 46:223–231

    Article  PubMed  CAS  Google Scholar 

  • Jiang Y., Tsai T.F., Bressler J., Beaudet A.L. (1998) Imprinting in Angelman and Prader-Willi syndromes. Curr üpin Genet Dev 8:334–342

    Article  CAS  Google Scholar 

  • Kleinjan D-J., Heyningen V. van (1998) Position effect in human genetic disease. Hum Mol Genet 7:1611–1618

    Article  PubMed  CAS  Google Scholar 

  • Klose J., Putz B. (1983) Analysis of two-dimensional protein pattern from mouse embryos with different trisomies. Proc Natl Acad Sci USA 80:3753–3757

    CAS  Google Scholar 

  • Klose J., Zeindl E., Sperling K. (1982) Analysis of protein patterns in two-dimensional gels of cultured human cells with trisomy 21. Clin Chem 28:987–992

    PubMed  CAS  Google Scholar 

  • Korenberg J.R., Chen X-N., Schipper R. et al. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91:4997–5001

    CAS  Google Scholar 

  • Ledbetter D.H., Engel E. (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757–1764

    PubMed  CAS  Google Scholar 

  • Lee J.T., Jaenisch R. (1997) The (epi)genetic control of mammalian X-chromosome inactivation. Curr üpin Genet Dev 7:274–280

    Article  CAS  Google Scholar 

  • Lichter P. (1997) Multicolor FISHing: what’s the catch? Trends Genet 13:475–479

    Article  PubMed  CAS  Google Scholar 

  • Lichter P., Speicher M.R. (1999) Die molekulare Zytogenetik: Konkurrenz, Ersatz oder Ergßnzung der konventionellen Zytogenetik? Med Genet 11:378–384

    Google Scholar 

  • Lupski J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417–422

    Article  PubMed  CAS  Google Scholar 

  • Lyon M.F. (1998) X-chromosome inactivation: a repeat hypothesis. Cytogenet Cell Genet 80:133–137

    Article  PubMed  CAS  Google Scholar 

  • Migeon B.R. (1994) X-chromosome inactivation: molecular mechanisms and genetic consequences. Trends Genet 10:230–235

    Article  PubMed  CAS  Google Scholar 

  • Neitzel H. (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320–326

    Article  PubMed  CAS  Google Scholar 

  • Neitzel H. (1999) Genetische Beratung im Zeitalter der molekularen Medizin. In: Schwinger E., Dudenhausen J.W. (Hrsg) Nichtdirektive humangenetische Beratung: Molekulare Medizin und Genetische Beratung. Ein Leitfaden der Stiftung für das behinderte Kind zur Förderung von Vorsorge und Früherkennung. Die Medizinische Verlagsgesellschaft Umwelt und Medizin mbH, Frankfurt/Main, S 66–74

    Google Scholar 

  • Nicholls R.D., Saitoh S., Horsthemke (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 14:194–200

    Google Scholar 

  • Nowell P., Rowley J., Knudson A. (1998) Cancer genetics, cytogenetics-defining the enemy within. Nat Med 4:1107–1111

    Article  PubMed  CAS  Google Scholar 

  • Ö’Brien S.J., Wienberg J., Lyons L.A. (1997) Comparative Genomics: lessons from cats. Trends Genet 13:393–399

    Article  Google Scholar 

  • Page S.L., Shaffer L.G. (1997) Nonhomologous Robertsonian translocations form predominantly during fern ale meiosis. Nat Genet 15:231–232

    Article  PubMed  CAS  Google Scholar 

  • Pratt Rossiter J., Young M., Kimberland M.L. et al. (1994) Factor VII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 3:1035–1039

    Google Scholar 

  • Rao E., Weiss B., Fukami M. et al. (1997) Pseudoautosomal deletions encompassing a novel homebox gene case growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54–63

    Article  PubMed  CAS  Google Scholar 

  • Reis A., Dittrich B., Greger V. et al. (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741–747

    PubMed  CAS  Google Scholar 

  • Renault L., Nassar N., Vetter I. et al. (1998) The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller. Nature 392:97–101

    Article  PubMed  CAS  Google Scholar 

  • Ropers H-H. (1998) Die Erforschung des menschlichen Genoms: Ein Zwischenbericht. Dtsch Arztebl 95:A–663–A670

    Google Scholar 

  • Smit A.F. (1996) The origin of interspersed repeats in the human genome. Curr üpin Genet Dev 6:743–748

    Article  CAS  Google Scholar 

  • Sperling K. (1983) Chromosomen-Anomalien beim Menschen: Hßufigkeit und Entstehung. Biologie in unserer Zeit 13:144–156

    Article  Google Scholar 

  • Sperling K. (1984) Frequency and origin of chromosome abnormalities in man. In: Öbe G (ed) Mutations in man. Springer, Berlin Heidelberg New York, pp 128–146

    Chapter  Google Scholar 

  • Sperling K. (1998) Has low dose irradiation an effect on chromosomal non-disjunction in man? In: Singh J.R., Sperling K., Neitzel H. (eds) Progress in human genetics. Printwell, Amritsar, pp 263–273

    Google Scholar 

  • Sperling K. (1999a) Die Genkarte des Menschen: Grundlage einer molekularen Anatomie. In: Parthier B (Hrsg) Jahrbuch 1998 der Deutschen Akademie der Naturforscher, Reihe 3, Jahrgang 45. Leopoldina, Halle/Saale, S 431–447

    Google Scholar 

  • Sperling K. (1999b) Das humane Genomprojekt. In: Niemitz C., Niemitz S. (Hrsg) Genforschung und Gentechnik-Ängste und Hoffnungen. Springer, Berlin Heidelberg New York, S 109–133

    Chapter  Google Scholar 

  • Sperling K., Kaden R. (1971) Meiotic studies of the ejaculated seminal fluid of humans with normal sperm count and oligospermia. Nature 232:481

    Article  PubMed  CAS  Google Scholar 

  • Sperling K., Wegner R-D. (1995) Ätiologie und Pathogenese chromosomal bedingter embryofetaler Fehlbildungen und Spontanaborte. In: Schneider J., Weitzel H. (Hrsg) Prßnatale Diagnostik und Therapie. Wissenschaftliche Verlagsgesellschaft, Stuttgart, S 47–86

    Google Scholar 

  • Sperling K., Pelz J., Wegner R.D., Dörries A., Grüters A., Mikkelsen M. (1994) Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor aceident: temporal correlation or causal relation? BMJ 309: 158–162

    Article  PubMed  CAS  Google Scholar 

  • Sperling K., Neitzel H., Wegner R-D. (1997) Der Einsatz der Zytogenetik in der Prßnataldiagostik unter qualitßtssicherndem Aspekt. In: Arndt D., Öbe G (Hrsg) Qualitßtssicherung in der Zyto-und Molekulargenetik. RobertKoch-Institut Schriften (RKI) 1/97. MMV Medizin Verlag, München

    Google Scholar 

  • Spriggs E.L., Rademaker A.W., Martin R.H. (1996) Aneuploidy in human sperm: the use of multicolor FISH to test various theories of nondisjunction. Am J Hum Genet 58:356–362

    PubMed  CAS  Google Scholar 

  • Stengel-Rutkowski S., Stene J., Gallano P. (1988) Risk estimates in balanced parental reciprocal translocations. Monographie des Annales de Genetique. Exp Sci Franc, Paris

    Google Scholar 

  • Strain L., Warner J.P., Johnston T., Bonthron D.T. (1995) A human parthenogenetic chimaera. Nat Genet 11: 164–169

    Article  PubMed  CAS  Google Scholar 

  • Sullivan B.A., Jenkins L.S., Karson E.M., Leana-Cox J., Schwartz S. (1996) Evidence of structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. Am J Hum Genet 59:167–175

    PubMed  CAS  Google Scholar 

  • Surani M.A. (1995) Parthogenesis in man. Nat Genet 11:111–113

    Article  PubMed  CAS  Google Scholar 

  • Therman E., Sarto G.E.(1983) Inactivation center on the human X chromosome. In: Sandberg A.A. (ed) Cytogenetics of the mammalian X chromosome. Part A. Liss, New York, pp 315–325

    Google Scholar 

  • Wallrath L.L. (1998) Unfolding the mysteries of heterochromatin. Curr Opin Genet Dev 8:147–153

    Article  PubMed  CAS  Google Scholar 

  • Warburton D., Byrne J., Canki N. (1991) Chromosome anomalies and prenatal development: an atlas. Oxford monographs on medical genetics 21. Oxford University Press, Oxford

    Google Scholar 

  • Wiedemann H-R., Kunze J. (1995) Atlas der klinischen Syndrome, 4. Aufl. Schattauer, Stuttgart New York, S 1–570 Zinn A.R., Ross J.L. (1998) Turner syndrome and haploidinsufficiency. Curr Opin Genet Dev 8:322–327

    Google Scholar 

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  1. Karl Sperling
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  2. Heidemarie Neitzel
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  1. Max-Delbrück-Centrum für Molekulare Medizin, Robert-Rössle-Str. 10, Berlin-Buch, Deutschland, 13122

    Detlev Ganten  & Klaus Ruckpaul  & 

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Sperling, K., Neitzel, H. (2000). Chromosomopathien. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 2. Handbuch der Molekularen Medizin, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57044-5_2

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