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The Biological Significance of Mongolism

Published online by Cambridge University Press:  29 January 2018

George F. Smith
Affiliation:
Rush Medical School, 1753 W. Congress Parkway, Chicago, Illinois 60612
Joseph Berg
Affiliation:
Mental Retardation Center, 5 Surrey Place, Toronto, Canada

Extract

Professor Penrose turned his attention to the subject of mongolism at a very early stage in his professional career and retained an undiminished interest in all facets of the problem for more than 40 years. His first publication in this sphere was in 1931 (1) and was entitled ‘The creases on the minimal digit in mongolism’. The observations he made in this publication are typical of some of his later ones. It reflected a mind alert to useful detail, in this case the fact that in some mongols there is only one flexion crease on the fifth digit instead of two. This peculiarity rarely occurs in the normal population and therefore provides an additional diagnostic criterion for mongolism. Particularly at a time when chromosomal examination could not be undertaken, this direct simple observation helped in the clinical delineation of a condition which is not always easily recognized.

Type
Research Article
Copyright
Copyright © Royal College of Psychiatrists, 1974 

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References

1 Penrose, L. S. (1931) The creases on the minimal digit in mongolism. Lancet, ii, 585.Google Scholar
2 Tredgold, A. F. (1908) Mental Deficiency (Amentia). London: Bailliere, Tindall and Cox.Google Scholar
3 Crookshank, F. G. (1924) The Mongol in our Midst. London: Kegan Paul, Trench and Trubner Ltd.Google Scholar
4 Penrose, L. S. (1932) The blood grouping of mongolian imbeciles. Lancet, i, 394.CrossRefGoogle Scholar
5 Langdon Down, J. (1866) Observations on an ethnic classification of idiots. Clin. Lectures and Reports, London Hospital, 3, 259.Google Scholar
6 Shuttleworth, G. E. (1909) Mongolian imbecility. Brit. med. J., iij 661.Google Scholar
7 Penrose, L. S. (1933) The relative effects of paternal and maternal age in mongolism. J. Genet., 27, 219.CrossRefGoogle Scholar
8 Penrose, L. S. (1934) A method of separating the relative aetiological effect of birth order and maternal age, with special reference to mongolian imbecility. Ann. Eugen., Lond., 6, 108.Google Scholar
9 Penrose, L. S. (1933) Mental Defect. London: Sidgwick and Jackson Ltd.Google Scholar
10 Ford-Walker, N. (1957) The use of dermal configurrations in the diagnosis of mongolism. J. Pediat., 50, 19 and 27.Google Scholar
11 Waardenburg, P. J. (1932) Das menschliche Auge und seine Erbanlagen. The Hague: Martinus Nijhoff.Google Scholar
12 Bleyer, A. (1934) Indications that mongoloid imbecelity is a gametic mutation of degenerative type. Amer. J. Dis. Child., 47, 342.Google Scholar
13 Penrose, L. S. (1939) Maternal age, order of birth and developmental abnormalities. J. ment. Sci., 85, 1141.Google Scholar
14 Mittwoch, U. (1952) The chromosome complement in a mongolian imbecile. Arm. Eugen., Lond., 17, 37.Google Scholar
15 Lejeune, J., Gautier, M. & Turpin, R. (1959) Études des chromosomes somatiques de neuf enfants mongoliens. C.R. Acad. Sci., 248, 1721.Google Scholar
16 Ford, C. E., Jones, K. W., Miller, O. J., Mittwoch, U., Penrose, L. S., Ridler, M. & Shapiro, A. (1959) The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet, i, 709.Google Scholar
17 Penrose, L. S., Ellis, J. R. & Delhanty, J. D. A. (1960) Chromosomal translocations in mongolism and in normal relatives. Lancet, ii, 409.Google Scholar
18 Penrose, L. S. (1954) The distal triradius t on the hands of parents and sibs of mongol imbeciles. Ann. hum. Genet., London, 19, 10.CrossRefGoogle ScholarPubMed
19 Penrose, L. S. (1967) Studies on Mosaicism in Down's Anomaly in Mental Retardation. (Jervis, G. A.). Springfield, Ill.: Charles C. Thomas.Google Scholar
20 Ford, C. E., Polani, P. E., Briggs, J. H. & Bishop, P. M. F. (1959) A presumptive human XXY/XX mosaic. Nature, Lond., 183, 1030.Google Scholar
21 Clarke, C. M., Edwards, J. H. & Smallpiece, V. (1961) 21 trisomy/normal mosaicism in an intelligent child with mongoloid characters. Lancet, i, 1028.CrossRefGoogle Scholar
22 Penrose, L. S. & Smith, G. F. (1966) Down's Anomaly. London: J. & A. Churchill Ltd.Google Scholar
23 Penrose, L. S. (1951) Maternal age in familial mongolism. J. ment. Sci., 97, 738.Google Scholar
24 Penrose, L. S. (1967) A Suggested Use of Dermatoglyphic Analysis in Mongolism. Mongolism CIBA Foundation Study Group 25. London: J. and A. Churchill Ltd.Google Scholar
25 Smith, G. F., Penrose, L. S. & O'Hara, P. (1967) Crystalline bodies in lymphocytes of patients with Down's Syndrome. Lancet, ii, 452.CrossRefGoogle Scholar
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