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Structural Variation of Chromosome 21 and Symptoms of Down’s Syndrome

  • Conference paper
Trisomy 21

Part of the book series: Human Genetics Supplement ((HUMAN GENETICS,volume 2))

Summary

The analysis of the fine structure of the chromatids permits the identification of different regions on the long arm of chromosome 21. The preponderant role of the distal third of the long arm in the syndrome of trisomy 21 is now well established. Thus, trisomy of only band 21q22 results in a state identical to that caused by complete trisomy 21. If the trisomy involves only a part of band 21q22, the intensity of the symptoms is diminished, but the appearance of the patient is still reminiscent of Down’s syndrome.

Monosomy for band 21q22 results in a pathologic condition in which the morphological anomalies are the inverse of those observed in trisomic patients. This syndrome, as a “contre-type” to trisomy 21, is lethal.

Trisomy of the proximal long arm region of chromosome 21 (21q21 → 21q22) is not associated with malformations but is accompanied by mental retardation. Monosomy of the same region results in a pathologic condition, which does not have features of the contre-type of trisomy 21.

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References

  • Aula P, Leisti J, Koskull H (1973) Partial trisomy 21. Clin genet 4: 241–251

    Article  PubMed  CAS  Google Scholar 

  • Badia L, Prieto F, Perez-Sirvent ML, Lono E (1976) Partial trisomy 13 and monosomie 21. Excerpta Med Int Cong Ser 397: 111

    Google Scholar 

  • Bowen, P, Biederman B, Gauk E, von Koenigsloew E (1976) Familial r(21) chromosome with distal deletion and trisomy for a proximal segment of chromosome 21 in different members. Excerpta Med Int Congr Ser 397: 111

    Google Scholar 

  • Cervenka J, Gorlin RJ, Djavanig R (1977) Down’s syndrome due to partial trisomy 21q.Clin Genet 11: 119–121

    CAS  Google Scholar 

  • Challacombe DN, Taylor A (1969) Monosomy for a G autosome. Arch Dis Child 44: 113–119

    Article  PubMed  CAS  Google Scholar 

  • Chapelle de la A, Koivisto M, Schröder J (1973) Segregating reciprocal (4; 21) (q21;q21) translocation with proposita trisomie for parts of 4q and 21. J Med Genet 10: 384–389

    Google Scholar 

  • Chen H, Tyrkus M, Wolley JR (1976) Partial trisomy 21 due to maternal t(12; 21) translocation: further evidence that the Down phenotype is related to trisomy of the distal segment of chromosome 21. Excerpta Med Int Congr Ser 397: 116

    Google Scholar 

  • Cottoni-Durand M (1979) Contribution à l’étude de la carte factorielle du chromosome 21. Medical dissertation, Nancy

    Google Scholar 

  • Couturier J, Dutrillaux B, Garber P, Raoul O, Croquette MF, Fourlinnie JC, Maillard E (1979) Evidence for a correlation between late replication and autosomal gene inactiviation in a familial translocation t(X; 21). Hum Genet 49: 319–326

    Article  PubMed  CAS  Google Scholar 

  • Crandall BF, Weber F, Muller HM, Burwell JF (1972) Identification of 21r and 22r chromosomes by quinacrine fluorescence. Clin Genet 3: 264–270

    Article  PubMed  CAS  Google Scholar 

  • Daniel A (1979) Normal phenotype and partial trisomy for the G positive region of chromosome 21. J Med Genet 16: 227–235

    Article  PubMed  CAS  Google Scholar 

  • Dutrillaux B, Jonasson J, Lauren H, Lejeune J, Lindsten J, Petersen GB, Saldana-Garcia P (1973) An unbalanced 4q/21q translocation identified by the R but not by the G and Q chromosome banding techniques. Ann Genet (Paris) 16: 11–16

    CAS  Google Scholar 

  • Dutrillaux B (1974) Sur la nature et l’origine des chromosomes humains. Thèse de sciences. Expansion scientifique francaise, Paris

    Google Scholar 

  • Dutrillaux B, Laurent C, Forabosco A, Noël B, Suerinc E, Biemont MC, Cotton JB (1975) La trisomie 4q partielle: à propos de trois observations. Ann Genet (Paris) 18: 21–27

    CAS  Google Scholar 

  • Fraisse J, Philip T, Couturier J, Lauras B, Freycon F, Robert JM (1977) Chromosome 21 transmission of a pericentric inversion over 6 generations: four cases of a aneusomy of meiotic recombination (duplication defiency). Excerpta Med Int Congr Ser 426: 37

    Google Scholar 

  • German JL, Beam AG (1966) Cité par Penrose. Lancet 1: 1130–1132

    Google Scholar 

  • Grouchy J de, Turleau C (1977) Atlas des maladies chromosomiques. Expansion scientifique française, Paris

    Google Scholar 

  • Guimaraes-Otto P, Toledo S, Richieri-Costa A, Otto PA, Vianna-Morgante AM, Kasahara S (1978) Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum Genet 41: 243–250

    Article  Google Scholar 

  • Hagemeijer A, Smit EMF (1976) Partial trisomy 21: Trisomy of band 21q22 responsible for Down’s syndrome. Excerpta Med Int Congr Ser 397: 128

    Google Scholar 

  • Holbek S, Friedrich U, Brostrom K, Petersen GB (1974) Monosomy for the centromeric and juxta centromeric region of chromosome 21. Hum Genet 24: 191–195

    Article  CAS  Google Scholar 

  • Ikeuchi T, Kondo I, Sasaki M, Kaneko Y, Kodama S, Hattori T (1976) Unbalanced 13q 21q translocation: a revised study of the case previously reported as 21 monosomy. Hum Genet 33: 327–330

    Article  PubMed  CAS  Google Scholar 

  • Kucerova M, Polivkova T (1974) A case of a girl with a 21 ring chromosome. Hum Hered 24: 100–104

    Article  PubMed  CAS  Google Scholar 

  • Kuliev AM, Grinberg KN, Kukharenko UI, Kulazenko UP (1977) Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level. Hum Genet 38: 137–145

    Article  PubMed  CAS  Google Scholar 

  • Larson LL, Aaro L, Titus J (1970) Monosomy of a G chromosome in spontaneous abortions. Am J Obstet Gynecol 106: 622–623

    PubMed  CAS  Google Scholar 

  • Laurent C, Dutrillaux B, Biemont M, Genoud J, Bethenod M (1973) Translocation t (14q-; 21q +) chez le père. Trisomie 14 et monosomie 21 partielles chez la fille. Ann Genet (Paris) 16: 281–284

    CAS  Google Scholar 

  • Lejeune J (1966) Type et contretype. Flammarion, Paris (Journées parisiennes de pédiatrie, vol 75 )

    Google Scholar 

  • Lejeune J (1968) Duplication des structures circulaires. Ann Genet (Paris) 11: 71–77

    CAS  Google Scholar 

  • Lejeune J, Berger R, Rethoré MO, Archambault L, Jérome H, Thieffry S, Aicardi J, Broyer M, Lafourcade J, Cruveiller J, Turpin R (1964) Monosomie partielle pour un petite acrocentrique. CR Acad Sci (Paris) 256: 4187–4190

    Google Scholar 

  • Maeda T, Ohno M, Nishida H (1977) Clinical and cytogenetic studies of two infants with partial monosomy G. Hum Genet 35: 255–259

    Article  PubMed  CAS  Google Scholar 

  • Magenis RE, Armendares S, Hecht F, Weleber RG, Overton K (1972) Identification by fluorescence of two G rings: (46, xy, 21r) G deletion syndrome I et (46, xx, 22r) G deletion syndrome II. Ann Genet (Paris) 15: 265–266

    CAS  Google Scholar 

  • Mattei JF, Mattei MG, Ardissone JP, Charvet JP, Chiaramello W, Giraud F (1979) Trisomie 21 partielle. Arch Fr Pediat 36: 404–412

    PubMed  CAS  Google Scholar 

  • Nevin NC, Mac Laverty B, Campbell WAB (1971) A child with a ring G chromosome (46, XX, Gr ). J Med Genet 8: 231–233

    Article  PubMed  CAS  Google Scholar 

  • Niebuhr E (1974) The possibility of a pathogenic segment on chromosome 21. Hum Genet 21: 99–101

    Article  CAS  Google Scholar 

  • O’Donnell JJ, Hall BD, Conte FA, Romanowski JC, Epstein CJ (1975) Down’s syndrome: localization of locus to distal portion of long arm of chromosome 21. Pediat Res 9: 315

    Google Scholar 

  • Ohama K, Kajii T (1972) Monosomy 21 in spontaneous abortus. Hum Genet 16: 267–270

    Article  CAS  Google Scholar 

  • Palmer CG, Hodes, ME, Reed T, Kojetin J (1977) Four new cases of ring 21 and 22 including familial transmission of ring 21. J Med Genet 14: 54–60

    Article  PubMed  CAS  Google Scholar 

  • Pfeiffer RA, Kessel EK, Soer KH (1977) Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19; 21 and 4; 21. Clin Genet 11: 207–2313

    Article  PubMed  CAS  Google Scholar 

  • Picciano DJ, Berlin CM, Davenport SLH, Jacobsen CB (1972) Human ring chromosomes: a report of five cases. Ann Genet (Paris) 15: 241–247

    CAS  Google Scholar 

  • Poissonnier M, Saint Paul B, Dutrillaux B, Chassaigne M, Gruyer P, Blignieres S, Strouk G (1976) Trisomie 21 partielle 21q 21 → 21q 22.2. Ann Genet (Paris) 19: 187–190

    Google Scholar 

  • Prieur M, Dutrillaux B, Lejeune J (1973) Planches descriptives des chromosomes humains (analyse en bandes R et nomenclature selon la conference de Paris 1971). Ann Genet (Paris) 16: 39–46

    CAS  Google Scholar 

  • Raoul O, Carpentier S, Dutrillaux B, Mallet R, Lejeune J (1976) Trisomies partielles du chromosome 21 par translocation maternelle t(15; 21) (q26.2;q21). Ann Genet (Paris) 19: 187–190

    CAS  Google Scholar 

  • Reisman LE, Kasahara S, Chung CY, Darnell A, Hall B (1966) Anti-mongolisme studied in an infant with a partial monosomy of the 21 chromosome. Lancet 1: 394–397

    Article  PubMed  CAS  Google Scholar 

  • Rethoré MO (1977) Chromosome deletions and ring chromosome syndromes. In: Vinken PJ, Bruyn GW (eds) Congenital malformations of the brain and skull. North Holland, Amsterdam, Handbook of clinical neurology, vol 31

    Google Scholar 

  • Rethoré MO, Dutrillaux B, Baheux G, Gerbeaux J, Lejeune (1972) Monosomie pour la région juxtacentromérique du chromosome 21. Exp Cell Res 70: 455

    Google Scholar 

  • Rethoré MO, Dutrillaux B, Lejeune J (1973) Translocation (46, XX, t(15;21) (ql3;q22.1) chez la mère de deux enfants atteints de trisomie 15 et de monosomie 21 partielles. Ann Genet (Paris) 16: 271–275

    Google Scholar 

  • Richmond HG, Macarthur P, Hunter D (1973) A “G” deletion syndrome anti-mongolisme. Acta Paediatr Scand 62: 216–220

    Article  PubMed  CAS  Google Scholar 

  • Sanchez O, Mamunes P, Yunis JJ (1977) Partial trisomy 20 (20ql3) and partial trisomy 21 (21pter → 21q21.3). J Med Genet 14: 459–462

    Article  PubMed  CAS  Google Scholar 

  • Schmidt R, Mundel G, Rosenblatt M, Katznelson MB (1972) Apparent G monosomy, G deletion and incomplete Down’s syndrome in a single family. J Med Genet 9: 457–461 (1972)

    Google Scholar 

  • Serra A, Pal Singh-Kahlon D (1976) 21 ring chromosome in a girl with stigmata of Down’s and G deletion syndromes. Hum Genet 33:47–53

    Article  PubMed  CAS  Google Scholar 

  • Shibata K, Waldenmaier C, Hirsch W (1973) A child with a 21 ring chromosome 54, XX, -21/46, XX, 21r investigated with the banding technique. Humangenetik 18: 315–319

    Article  PubMed  CAS  Google Scholar 

  • Sinet PM, Couturier J, Dutrillaux B, Poissonnier M, Raoul O, Rethore MO, Allard D, Lejeune J, Jérome H (1975) Trisomie 21 et superoxyde dismutase -1 (IPO - A). Tentative de localisation sur la sous bande 21q22.1. Exp Cell Res 97: 47–55

    Article  Google Scholar 

  • Summit RL, Martens PR, Wilroy RS (1974) X autosome translocation in normal mother and effectively 21 monosomie daughter. J Pediatr 84: 539–546

    Article  Google Scholar 

  • Vilbert MP (1978) Monosomie proximale du chromosome 21. Medical dissertation Nice

    Google Scholar 

  • Wahrman J, Goitein R, Richler C, Goldman B, Akstein E, Chaiki R (1974) The mongoloid phenotype in man is due to trisomy of the distal pale G-band of chromosome 21. In: Pearson PL, Lewis KR (eds) Chromosomes today. Miley, New York Toronto, pp 241–248

    Google Scholar 

  • Warren RJ, Rimoin DL, Summit RL (1973) Identification by fluorescent microscopy of the abnormal chromosomes associated with G deletion syndromes. Am J Hum Genet 25: 77–81

    PubMed  CAS  Google Scholar 

  • Williams JD, Summit RL, Martens PR, Kimbrell RA (1975) Familial Down’s syndrome due to t(10; 21) translocation: evidence that the Down’s syndrome phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet 27: 478–481

    PubMed  CAS  Google Scholar 

  • Yamamoto Y, Ogasawara N, Gotoh A, Komiya H, Nakai H, Kuroki Y (1979) A case of 21q-syndrome with normal SOD-1 activity. Hum Genet 48: 312–327

    Article  Google Scholar 

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Authors and Affiliations

  1. Institut de Progenese, 15, rue de l’Ecole de Médecine, F-75006, Paris, France

    Marie-Odile Rethoré

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  1. Marie-Odile Rethoré
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Editors and Affiliations

  1. Clinica Pediatrica, Università di Pavia, Italy

    G. Roberto Burgio

  2. Istituto di Biologia Generale e Genetica Medica, Università di Pavia, Italy

    Marco Fraccaro  & Luciano Tiepolo  & 

  3. Institut für Humangenetik und Anthropologie, Universität Freiburg i. Br, Federal Republic of Germany

    Ulrich Wolf

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© 1981 Springer-Verlag Berlin Heidelberg

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Rethoré, MO. (1981). Structural Variation of Chromosome 21 and Symptoms of Down’s Syndrome. In: Burgio, G.R., Fraccaro, M., Tiepolo, L., Wolf, U. (eds) Trisomy 21. Human Genetics Supplement, vol 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-68006-9_13

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  • DOI: https://doi.org/10.1007/978-3-642-68006-9_13

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-10653-1

  • Online ISBN: 978-3-642-68006-9

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