Chromosomal analysis is a valuable tool for diagnosis of anomalies, in pedigree analysis and interpretation, and in genetic counseling. In this report we review the findings in 600 patients studied over a one-year period at Cardinal Glennon Memorial Hospital for Children in St. Louis.
Get full access to this article
View all access options for this article.
References
1.
Alexander, D.S. and Ferguson-Smith , M.A.: Chromosomal studies in some variants of male pseudohermaphroiditism. Pediatrics28: 758, 1961.
2.
Baikie, A.G. , Jacobs, P.A., McBride, J.A. and Tough, T.M.: Cytogenetic studies in acute leukaemia . Brit. Med. J.1: 1564, 1961.
3.
Benirschke, K., Brownhill, L., Hoefnagel, D. and Allen, F.H.: Langdon Down anomaly (mongolism) with 21/21 translocation and Klinefelter's syndrome in the same sibship. Cytogenetics1: 75, 1962.
4.
Blank, C.E., Gemmell, E., Casey, M.D. and Lord, M.: Mosaicism in a mother with a mongol child. Brit. Med. J.2: 378, 1962.
5.
Carter, C.O. , Hamerton, J.L., Polani, P.E., Gunalp, A. and Weller, S.V.D.: Chromosome translocation as a cause of familial mongolism. Lancet2: 678, 1960.
6.
Day, R.W. and Wright, S.W.: Down's syndrome at young maternal ages: chromosomal and family studies. J. Pediat.66: 764, 1965.
7.
DeGrouchy, J. , Lamy, M., Yaneva, H., Salomon, Y. and Netter, A.: Further abnormalities of the X chromosome in primary amenorrhea or in severe oligomenorrhea. Lancet2: 777, 1961.
8.
Forssman, H. and Lehmann, O.Chromosome studies in eleven families with mongolism in more than one member. Acta Paediat.51: 180, 1962.
9.
Gustavson, K.H. : Chromosomal translocation, on a mongoloid girl with some atypical features. Acta Paediat.51: 337, 1962.
10.
Hamerton, J.L. and Steinberg, A.G.: Progeny of D/G translocation heterozygotes in familial Down's syndrome. Lancet1: 1408, 1962.
11.
Hayashi, T. : Karyotypic analysis of 83 cases of Down's syndrome in Harris County, Texas. Texas Rep. Biol. & Med.21: 28, 1963.
12.
Hayashi, T. , Hsu, T.C. and Chao, D.: A case of mosaicism in mongolism. Lancet1: 218, 1962.
13.
Jacobs, P.A. , Harnden, D.G., Court-Brown, W.M., Goldstein, J., Close, H.G., McGregor, T.N., Maclean, N. and Strong, J.A.: Abnormalities involving the X chromosome in women. Lancet1: 1213,1960.
14.
Lehmann, O. and Forssman, H.: Klinefelter's syndrome and mongolism in the same person. Acta Paediat.49: 536, 1960.
15.
Lejeune, J. , Gautier, M. and Turpin, R.: Etude des chromosomes somatiques de neuf enfants mongoliens. C. r. acad. Sci.248: 1721, 1959 .
16.
Lejeune, J. , Turpin, R. and Gautier, M.: Genetique ; analyse caryotypique de trois pseudohermaphrodites masculins. C. r. Acad. Sci.250: 618, 1960.
17.
Macintyre, M.N., Staples, W.I., Steinberg, A.G. and Hempel, J.M.: Familial mongolism (trisomy 21 syndrome) resulting from a "15/21" chromosome translocation in more than three generations of a large kindred. Amer. J. Hum. Genet.14: 335, 1962.
18.
Moorhead, P.S. , Nowell, P.C., Mellman, W.J., Battips, D.M. and Hungerford , D.A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell. Res.20: 613, 1960.
19.
Nelson, L., Ferrari, I. and Bottura, D.: Chromosomal constitution in a case of Klinefelter's syndrome. Lancet2: 319, 1960.
20.
Patau, K.: The identification of individual chromosomes, especially in man. Amer. J. Hum. Genet.12: 250, 1960.
21.
Penrose, L.S. , Ellis, J.R. and Delhanty, J.D.A.: Chromosomal translocations in mongolism and in normal relatives. Lancet2: 409, 1960.
22.
Polani, P.E. , Briggs, J.H., Ford, C.E., Clarke, C.M. and Berg, J.M.: A mongol girl with 46 chromosomes. Lancet1: 721, 1960.
23.
Polani, P.E. : Turner's syndrome and allied conditions ; clinical features and chromosome abnormalities. Brit. Med. Bull.17: 200, 1961.
Smith, D.W. , Therman, E.M., Patau, K.A. and Inhorn, S.L.: Mosaicism in mother of two mongoloids. Amer. J. Dis. Child.104: 534, 1962.
26.
Smith, D.W. , Patau, K., Therman, E. and Inhorn, S.L.: The No. 18 trisomy syndrome. J. Pediat.60: 513, 1962.
27.
Tjio, J.H. and Levan, A.: The chromosome number of man. Hereditas42: 1, 1956.
28.
Tough, I.M. , Buckton, K.E., Baikie, A.G. and Court-Brown , W.M.: X-ray induced chromosome damage in man. Lancet2: 849, 1960.
29.
Warkany, J. , Weinstein, E.D., Soukup, S.W., Rubinstein, J.H. and Curless, M.C.: Chromosome analyses in a children's hospital: selection of patients and results of studies. J. Pediat.33: 290, 1964.
30.
Zellweger, H. and Abbo, G.: Chromosomal mosaicism and mongolism. Lancet1: 827, 1963.