Basic Science Review : Familial Mongolism

Abstract

Get full access to this article

View all access options for this article.

References

Down, J.H.L. : Observations on an ethnic classification of idiots. London Hosp. Rep. 3: 259-262, 1866.

Goddard, H.H. : Feeblemindedness, Its Causes and Consequences. New York , Macmillan, 1914.

Stevens, H.C. : Mongolian idiocy and syphilis. J. A. M. A. 64: 1636-1640, 1915.

Babonneix, L. and J. Villette : Idiotie mongolienne familiale . Arch. Med. des Enf. 19: 478-481, 1916.

Hermann, C. : New York Academy of Medicine Section on Pediatrics. Arch. Ped. 34: 391-394, 1917.

van der Scheer, W.M. : Multiple cases of mongoloid idiocy in a family. Nederl. Tijdschr. Geneesk. 1: 328, 1919.

Pardee, I.H. : Two cases of mongolian idiocy in the same family . J. A. M. A. 74: 94-95, 1920.

Macklin, M.T. : Mongolian idiocy—The manner of its inheritance . Am. J. Med. Sci. 178: 315-337, 1929.

Fantham, H.B. : South Afric. J. Sci. 22: 400-412, 1925, cit. Penrose, L.S. : The Biology of Mental Defect , London, 1949.

10.

Hanhart, E. : 800 Faelle von Mongoloidismus in konstitutioneller Betrachtung. Arch. Jul. Klaus-Stift. 35: 1-312, 1960.

11.

Mengoli V. e P. Montenovesi : II Mongolismo negli aspetti medici e sociali. Atti 25th Congr. Soc. Ital. Ped., 1957: 779-799.

12.

Allen, G. and F.J. Kallmann : Mongolism in twin sibships. Acta Genet. Stat. Med. 7: 385-393, 1957.

13.

Penrose, L.S. : Observations on the aetiology of mongolism . Lancet 2: 505-509, 1954.

14.

Zellweger, H. : News in cytogenetics. Ann. Paed. 201: 256-272, 1963.

15.

Hanhart, E. : Neue familiaere Faelle von mongoloidem Schwachsinn als Beweis fuer die Mitwirkung von Erbfaktoren. Arch. Jul. Klaus-Stift. 19: 3-4, 1944.

16.

Turpin, R. et A. Caratzali : Remarques sur les ascendants et les collatéraux des sujets atteints de mongolisme . Presse Med. 1934: 1186-1190.

17.

Doxiades, L. und W. Portius : Zur Aetiologie der Mongolismus unter besonderer Beruecksichtigung der Sippenbefunde. Zeitschr. Menschl. Konst. Lehre 21: 384-446, 1937- 1938.

18.

Penrose, L.S. : Maternal age in familial mongolism. J. Ment. Sci. 97: 738-747, 1951.

19.

Lejeune, J. , R. Turpin et M. Gautier : Étude des chromosomes somatiques de neuf enfants mongoliens. C. R. Acad. Sci. ( Paris) 248: 1721-1722, 1959.

20.

Jacobs, P.A. , A.G. Baikie , W.M. Court-Brown and J.A. Strong : The somatic chromosomes in mongolism. Lancet 1: 710-711, 1959.

21.

Penrose, L.S. , J.R. Ellis and J.D.A. Delhanty : Chromosomal translocations in mongolism and in normal relatives. Lancet 2: 409-410, 1960.

22.

Carter, C.O. J.L. Hamerton , P.E. Polani , A. Gunalp and S.D.V. Weller : Chromosome translocation as a cause of familial mongolism. Lancet 2: 678-680, 1960.

23.

Shaw, M.W. : Familial mongolism. Cytogenetics 1: 141-179, 1962.

24.

MacIntyre, M.N. , W.I. Staples , A.G. Steinberg and J.M. Hempel : Familial mongolism (trisomy 21) resulting from '15/21' chromosome translocation in more than three generations of a large kindred. Am. J. Hum. Genet. 14: 335-344, 1962.

25.

Scherz, R.G. : Negro female mongol with 46 chromosomes. Lancet 2: 882, 1962.

26.

Polani, P.E. , J. Briggs , C. Ford , C. Clarke and J. Berg : A mongol girl with 46 chromosomes. Lancet 1: 721-724, 1960.

27.

Forssman, H. and O. Lehmann : Chromosome studies in eleven families with mongolism in more than one member. Acta Paed. (Uppsala) 51: 180-188, 1962.

28.

Hamerton, J.L. , V.A. Cowie , F. Giannelli , S.M. Briggs and P.E. Polani : Differential transmission of Down's syndrome (mongolism) through male and female translocation carriers. Lancet 2: 956-958, 1961.

29.

Breg, W.R. , O.J. Miller and R.D. Schmickel : Chromosomal translocations in patients with mongolism and in their normal relatives. New Eng. J. Med. 266: 845-852, 1962.

30.

German, J.L. , A.P. DeMayo and A.G. Bearn : Inheritance of an abnormal chromosome in Down's syndrome (mongolism) with leukemia. Am. J. Hum. Genet. 14: 31-33, 1962.

31.

Makino, S. , A. Tonomura and E. Masunaga : Chromosome studies in ten cases of mongolism. Proc. Jap. Acad. 36: 670-674, 1960.

32.

Sergovich, F.R. , H.C. Soltan and D.H. Carr : A 13-15/21 translocation carrier father and mongol son. Canad. Med. Ass. J. 87: 852-858, 1962.

33.

Hayashi, T. : Karyotypic analysis of 83 cases of Down's syndrome in Harris County, Texas. Texas Rep. Biol. Med. 21: 28-36, 1963.

34.

Haylock, J. : Personal communication.

35.

Zellweger, H. : Genetic aspects of mental retardation. Arch. Int. Med. 111: 165-177, 1963.

36.

Hamerton, J.L. and A.G. Steinberg : Progeny of D/G translocation heterozygotes in familial Down's syndrome. Lancet 1: 1408, 1962.

37.

Polani, P.E. : Cytogenetics of Down's syndrome (mongolism) . Ped. Clin. North Amer. 1963: 423-448.

38.

Barnicot, N.A. , J.R. Ellis and L.S. Penrose : Translocation and trisomic mongol sibs . Ann. Hum. Genet. 26: 279-285, 1963.

39.

Atkins, L. , M.A. O'Sullivan and C.V. Pryles : Mongolism in three siblings with 46 chromosomes. New Eng. J. Med. 266: 631-635, 1962.

40.

Buckton, K.E. , D.G. Harnden , A.G. Baikie and G.E. Woods : Mongolism and leukaemia in the same sibship . Lancet 1: 171-172, 1961.

41.

Biesele, J.J. , W. Schmid , C.H. Lee and P.M. Smith : Translocation between acrocentric chromosomes in a 46-chromosome mongoloid and his 45-chromosome mother. Am. J. Hum. Genet. 14: 125-134, 1962.

42.

Ek, J.I. , V. Falk , S. Bergman and J. Reitalu : A male mongoloid with 46 chromosomes . Lancet 2: 526-527, 1961.

43.

Penrose, L.S. and J.D.A. Delhanty : Familial Langdon Down anomaly with chromosomal fusion. Ann. Hum. Genet. 25: 243-252, 1961.

44.

Lehmann, O. , H. Forssman and T. Hallstrom : Chromosome studies of persons with mongolism (Down's syndrome) born to young mothers. Acta Societ. Med. Upsal. 67: 285-289, 1962.

45.

Berzirschke, K. , L. Brownhill , D. Hoefnagel and F.H. Allen : Langdon Down anomaly (mongolism) with 21/21 translocation and Klinefelter's syndrome in the same sibship. Cytogenetics 1: 75-89, 1962.

46.

Cooper, H.L. and K. Hirschhorn : Enlarged satellites as a familial chromosome marker. Am. J. Hum. Genet. 14: 107-113, 1962.

47.

Gray, J.E. , D.E. Mutton and D.W. Ashby : Peri-centric inversion of chromosome 21—a possible further cytogenetic mechanism in mongolism. Lancet 1: 21, 1962.

48.

Warkany, J. and S.W. Soukup : A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism). J. Ped. 62: 890-894, 1963.

49.

Forssman, H. and O. Lehmann : Translocation-carrying phenotypically normal males and the Down syndrome. Lancet 1: 1286-1287, 1961.

50.

Pfeiffer, R.A. : The transmission of a G/G translocation. Lancet 1: 1163, 1963.

51.

Gustavson, K.-H. : Chromosomal translocation in a mongoloid girl with some atypical features. Acta Paed. ( Uppsala) 51: 337-343, 1962.

52.

Zellweger, H. , K. Mikamo and G. Abbo : An unusual translocation in a case of mongolism . J. Ped. 62: 225-229, 1963.

53.

Hamerton, J.L. , S. Briggs , F. Giannelli and C.O. Carter : Chromosome studies in detection of parents with high risk of second child with Down's syndrome . Lancet 2: 788-791, 1961.

54.

Mukherjee, B.B. , O.J. Miller and W.R. Breg : Chromosomal rearrangement (a 21/21 isochromosome ?) as a cause of familial mongolism. (abstract) Proc. Am. Soc. Hum. Genet. 1962: 558.

55.

Dallaire, L. , F.C. Fraser and J.W. Boyes : Translocations causing malformations in man. (abstract)Proc. Am. Soc. Hum. Genet. 1962: 561.

56.

Fraccaro, M. , K. Kaijser and J. Lindsten : Chromosomal abnormalities in father and mongol child. Lancet 1: 724-727, 1960.

57.

Shaw, M.W. and E.H.Y. Chu : Chromosome analysis of a mother of two mongols. (abstract) Trans. Am. Soc. Hum. Genet. 1961: 16.

58.

Moorhead, P.S. , W.J. Mellman and C. Wenar : A familial chromosome translocation associated with speech and mental retardation. Am. J. Hum. Genet. 13: 32-46, 1961.

59.

Miller, J.R. and F.J. Dill : Familial studies on a new translocation associated with mongolism. (abstract) Trans. Am. Soc. Hum. Genet. 1963: 37.

60.

Lubs, H.A. : Causes of familial mongolism. Lancet 2: 881, 1961.

61.

Mikkelsen, M. and J.C. Melchior : Mongoloid twins with trisomy of chromosome no. 21. Acta Genet. (Basel ) 12: 164-171, 1962.

62.

Hustinx, T.W.J. , P. Eberle , S.J. Geerts , J. Ten Brink and L.M. Woltring : Mongoloid twins with 48 chromosomes (AA + A21 XXY). Ann. Hum. Genet. (London) 25: 111-115, 1961.

63.

Turpin, R. : Personal communication.

64.

De Wolff, E. , K. Schaerer et J. Lejeune : Contribution à l'étude des jumeaux mongoliens . Helv. Paed. Acta 17: 301-328, 1962.

65.

Turpin, R. : Gémellités monozygotes et aberrations chromosomiques. Med. Hyg. 602: 647, 1963.

66.

Blank, C.E. , E. Gemell , M.D. Casey and M. Lord : Mosaicism in a mother with a mongol child . Brit. Med. J. 2: 378-380, 1962.

67.

Smith, D.W. , E.M. Therman , K.A. Patau and S.L. Inhorn : Mosaicism in mother of two mongoloids. (abstract) Am. J. Dis. Child. 104: 534, 1962 .

68.

Zellweger, H. and K. Mikamo : Autosomal cytogenetics. Helv. Paed. Acta 16: 670-690, 1961.

69.

Therman, E. , K. Patau , D.W. Smith and R.I. DeMars : The D trisomy syndrome and XO gonadal dysgenesis in two sisters. Am. J. Hum. Genet. 13: 193-204, 1961.

70.

Day, R.W. , S.W. Wright , A. Koons and M. Quigley : XXX, 21 trisomy and retinoblastoma. Lancet 2: 154-155, 1963.

71.

Breg, W.R. , J.G. Cornwell and O.J. Miller : The association of the triple-X syndrome and mongolism in two families . Am. J. Dis. Child. 103: 534-535, 1962.

72.

Miller, O.J. , W.R. Breg , R.D. Schmickel and W. Tretter : A family with an XXXXY male, a leukaemic male, and two 21-trisomic mongoloid females. Lancet 2: 78-79, 1961.

73.

Hauschka, T.S. , J.E. Hasson , M.N. Goldstein , G.F. Koepf and A.A. Sandberg : An XYY man with progeny indicating familial tendency to nondisjunction. Am. J. Hum. Genet. 14: 22-30, 1962.