Skip to main content
PMC home page
Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1962 Sep 1;87(9):490–495.

The Chromosome Abnormality in Mongolism

David H Carr
PMCID: PMC1849549  PMID: 13876803

Abstract

In an examination of our present knowledge regarding chromosome anomalies in mongolism the anomalies of trisomy-21 (the commonest anomaly in association with mongolism), 13-15/21 translocation and 21-22/21 translocation were illustrated and discussed. The relatively uncommon chromosome translocations and chromosome mosaicisms found in association with mongolism have especial clinical importance. Translocation of either type may occur as an isolated finding in a mongoloid patient. However, the translocation chromosome is frequently also found in one of the phenotypically normal parents. This is associated with an increased incidence of mongolism in the offspring, though the actual risk figure is uncertain in view of the small number of families described to date. The occurrence of chromosome mosaicism in mongolism may be associated with incomplete manifestation of the syndrome, and the ultimate mental development in such patients has varied from normal to severely retarded in cases described in the literature.

Full text

PDF
490

Images in this article

491Fig. 1
on p.491
492Fig. 2
on p.492
493Fig. 3
on p.493
494Fig. 5
on p.494

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AULA P., HJELT L., KAUHTIO J. Chromosomal investigation in congenital malformations. Ann Paediatr Fenn. 1961;7:206–216. [PubMed] [Google Scholar]
  2. BOOK J. A., FRACCARO M., LINDSTEN J. Cytogenetical observations in mongolism. Acta Paediatr. 1959 Sep;48:453–468. doi: 10.1111/j.1651-2227.1959.tb16409.x. [DOI] [PubMed] [Google Scholar]
  3. CLARKE C. M., EDWARDS J. H., SMALLPEICE V. 21-trisomy/normal mosaicism in an intelligent child with some mongoloid characters. Lancet. 1961 May 13;1(7185):1028–1030. doi: 10.1016/s0140-6736(61)91833-5. [DOI] [PubMed] [Google Scholar]
  4. EK J. I., FALK V., BERGMAN S., REITALU J. A male mongoloid with 46 chromosomes. Lancet. 1961 Sep 2;2(7201):526–527. doi: 10.1016/s0140-6736(61)92960-9. [DOI] [PubMed] [Google Scholar]
  5. FORD C. E., POLANI P. E., BRIGGS J. H., BISHOP P. M. A presumptive human XXY/XX mosaic. Nature. 1959 Apr 11;183(4667):1030–1032. doi: 10.1038/1831030a0. [DOI] [PubMed] [Google Scholar]
  6. FRACCARO M., KAIJSER K., LINDSTEN J. Chromosomal abnormalities in father and Mongol child. Lancet. 1960 Apr 2;1(7127):724–727. doi: 10.1016/s0140-6736(60)90615-2. [DOI] [PubMed] [Google Scholar]
  7. GRAY J. E., MUTTON D. E., ASHBY D. W. Pericentric inversion of chromosome 21. A possible further cytogenetic mechanism in mongolism. Lancet. 1962 Jan 6;1(7219):21–23. doi: 10.1016/s0140-6736(62)92643-0. [DOI] [PubMed] [Google Scholar]
  8. HAMERTON J. L., BRIGGS S. M., GIANNELLI F., CARTER C. O. Chromosome studies in detection of parents with high risk of second child with Down's syndrome. Lancet. 1961 Oct 7;2(7206):788–791. doi: 10.1016/s0140-6736(61)91086-8. [DOI] [PubMed] [Google Scholar]
  9. ILBERY P. L., LEE C. W., WINN S. M. Incomplete trisomy in a mongoloid child exhibiting minimal stigmata. Med J Aust. 1961 Jul 29;48(2):182–184. doi: 10.5694/j.1326-5377.1961.tb69511.x. [DOI] [PubMed] [Google Scholar]
  10. JACOBS P. A., BAIKIE A. G., COURT BROWN W. M., STRONG J. A. The somatic chromosomes in mongolism. Lancet. 1959 Apr 4;1(7075):710–710. doi: 10.1016/s0140-6736(59)91892-6. [DOI] [PubMed] [Google Scholar]
  11. LEJEUNE J., GAUTIER M., TURPIN R. Etude des chromosomes somatiques de neuf enfants mongoliens. C R Hebd Seances Acad Sci. 1959 Mar 16;248(11):1721–1722. [PubMed] [Google Scholar]
  12. MILLER O. J., BREG W. R., SCHMICKEL R. D., TRETTER W. A family with an XXXXY male, a leukaemic male, and two 21-trisomic mongoloid females. Lancet. 1961 Jul 8;2(7193):78–79. doi: 10.1016/s0140-6736(61)92372-8. [DOI] [PubMed] [Google Scholar]
  13. NICHOLS W. W., CORIELL L. L., FABRIZIO D. P., BISHOP H. C., BOGGS T. R., Jr Mongolism with mosaic chromosome pattern. J Pediatr. 1962 Jan;60:69–76. doi: 10.1016/s0022-3476(62)80011-0. [DOI] [PubMed] [Google Scholar]
  14. PENROSE L. S., ELLIS J. R., DELHANTY J. D. Chromosomal translocations in mongolism and in normal relatives. Lancet. 1960 Aug 20;2(7147):409–410. doi: 10.1016/s0140-6736(60)92846-4. [DOI] [PubMed] [Google Scholar]
  15. PENROSE L. S. Mongolism. Br Med Bull. 1961 Sep;17:184–189. doi: 10.1093/oxfordjournals.bmb.a069906. [DOI] [PubMed] [Google Scholar]
  16. POLANI P. E., BRIGGS J. H., FORD C. E., CLARKE C. M., BERG J. M. A Mongol girl with 46 chromosomes. Lancet. 1960 Apr 2;1(7127):721–724. doi: 10.1016/s0140-6736(60)90614-0. [DOI] [PubMed] [Google Scholar]
  17. THERMAN E., PATAU K., SMITH D. W., DEMARS R. I. The D triisomy syndrome and XO gonadal dysgenesis in two sisters. Am J Hum Genet. 1961 Jun;13:193–204. [PMC free article] [PubMed] [Google Scholar]
  18. ZELLWEGER H., MIKAMO K. Autosomal cytogenetics. Helv Paediatr Acta. 1961 Dec;16:670–690. [PubMed] [Google Scholar]

Articles from Canadian Medical Association Journal are provided here courtesy of Canadian Medical Association

RESOURCES