Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/translocation-and-trisomic-mongol-sibs-FT10tJW5LJ
References (18)
-
Turpin Turpin, Lejeune Lejeune, Lafourcade Lafourcade, Gautier Gautier (1959)
Aberrations chromosomique et maladies humaines. La polydysspondylie à 45 chromosomesC.R. Acad. Sci., Paris, 248
-
D. Harnden (1960)
A human skin culture technique used for cytological examinations.British journal of experimental pathology, 41
-
P. Moorhead, P. Nowell, W. Mellman, D. Battips, D. Hungerford (1960)
Chromosome preparations of leukocytes cultured from human peripheral blood.Experimental cell research, 20
-
J. Gray, D. Mutton, D. Ashby (1962)
Pericentric inversion of chromosome 21. A possible further cytogenetic mechanism in mongolism.Lancet, 1 7219
-
E. Helwig (1941)
Multiple chromosomes in Philocleon anomalus (Orthoptera: Acrididae)Journal of Morphology, 69
-
L. Penrose, J. Delhanty (1962)
Familial Langdon Down anomaly with chromosomal fusionAnnals of Human Genetics, 25
-
J. Ellis (1963)
Spontaneous translocation in a cell cultureAnnals of Human Genetics, 26
-
N. Barnicot, H. Huxley (1962)
The electron microscopy of unsectioned human chromosomesAnnals of Human Genetics, 25
-
P. Moorhead, W. Mellman, C. Wenar (1961)
A familial chromosome translocation associated with speech and mental retardation.American journal of human genetics, 13
-
W. Breg, O. Miller, R. Schmickel (1962)
Chromosomal translocations in patients with mongolism and in their normal relatives.The New England journal of medicine, 266
-
L. Penrose, J. Ellis, J. Delhanty (1960)
Chromosomal translocations in mongolism and in normal relatives.Lancet, 2 7147
-
Ferguson‐Smith Ferguson‐Smith (1962)
Chromosome abnormalitiesProc. R. Soc. Med., 55
-
K. Buckton, D. Harnden, A. Baikie, G. Woods (1961)
MONGOLISM AND LEUKÆMIA IN THE SAME SIBSHIPThe Lancet, 277
-
J. Watt, D. Couzin, G. Stephen
Pericentric inversion of chromosome 19Prenatal Diagnosis, 6
-
C. Carter, J. Hamerton, P. Polani, A. Gunalp, S. Weller (1960)
Chromosome translocation as a cause of familial mongolism.Lancet, 2 7152
-
J. Hamerton, A. Steinberg (1962)
PROGENY OF D/G TRANSLOCATION HETEROZYGOTES IN FAMILIAL DOWN'S SYNDROMEThe Lancet, 279
-
P. Polani, P. Polani, J. Briggs, J. Briggs, C. Ford, C. Clarke, J. Berg (1960)
A Mongol girl with 46 chromosomes.Lancet, 1 7127
-
E. Helwig (1942)
Unusual integrations of the chromatin in machaerocera and other genera of the acrididae (Orthoptera)Journal of Morphology, 71
- Publisher
- Wiley
- Copyright
- Copyright © 1963 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 0003-4800
- eISSN
- 1469-1809
- DOI
- 10.1111/j.1469-1809.1963.tb01984.x
- Publisher site
- See Article on Publisher Site
Abstract
SUMMARY A family in which there were two mongol sisters is described. Cytological investigation showed that the elder sister had a chromosomal translocation and the younger was a mongol of the standard trisomic type. The translocation chromosome, as observed under the electron microscope, was found to have an unusual centromere structure. Possible origins of the translocation are discussed. The writers wish to extend their thanks to Dr H. E. Huxley for photographing the preparations under the electron microscope, to Miss Ruth Marshall for red cell antigen typing and for culturing a specimen of peripheral blood, to Dr Sarah B. Holt for analysing the finger dermal ridge patterns, to Mr A. J. Lee for drawings, to Miss Marie Bogati and Mr N. P. Bishun for assistance with fibroblast cultures, to Miss Barbara Warland for family history notes, to Dr D. H. H. Thomas, Dr G. E. B. Scott and Dr J. E. Bowman for assistance with clinical examinations and to Miss H. Lang‐Brown for help in compiling the paper for publication. The work was supported in part by a grant (RG‐6984) from the United States Public Health Service.
Journal
Annals of Human Genetics – Wiley
Published: Mar 1, 1963