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CHROMOSOMAL MOSAICISM IN A CASE OF REPEATED ABORTION
936 results of different methods of treatment will be similar. This similarity is due to the large proportion of patients who have advanced disease when they come for treatment and who obscure the results in the smaller group of early and curable cases. But this should not lead us to ignore the advantage of radical mastectomy in the patients with early breast cancer and rob them of their best chance of surgery. Department of Surgery, College of Physicians and Surgeons of Columbia University, New York, U.S.A.
the possibility of chromosomal aberrations in spontaneous abortion. These were first demonstrated by Penrose and Delhanty.2 Since then many other cases have been described.34 Most of these workers used abortus material or foetal membranes for chromosome studies, but investigation of the parents suggests that a chromosome translocation could contribute to recurrent abortion.5We have recently investigated a patient who had repeated abortions, and in whom chromosome analysis revealed chromosomal mosaicism. on
A woman, aged 21 years, was admitted to hospital for medical induction of labour for which the indication was a hydrocephalic fcetus with spina bifida at 37 weeks. This was the third pregnancy. The first one ended with a stillborn, grossly deformed male. Her second baby was a male who had spina bifida and died after 3 days. 1. 2. 3. 4. 5. 6.
Moorhead et al.,with some modifications, and of Robinson et al.Both cultures were reasonably successful, and from them a total of 61 cells was examined and counted, with the following results:
C. D. HAAGENSEN.
CHROMOSOMAL MOSAICISM IN A CASE OF REPEATED ABORTION
SIR,-Ford1 has speculated
patient was the sixth of a family of ten from thirteen pregnancies, three of which had ended in miscarriages. All members of the sibship died before the age of 5 years except the patient and her brother, who is now 32 years old. Both their parents are now dead. On clinical examination, the patient was apparently healthy. Blood-cultures were set up according to the methods of The
Ford, C. E. Brit. med. Bull. 1961, 17, 1027. Penrose, L. S., Delhanty, J. Lancet, 1961, i, 1261. Carr, D. H. ibid. 1963, ii, 603. Hall, B., Kallen, B. ibid. 1964, i, 110. Schmid, W. Cytogenetics, 1962, 1, 199. Carr, D. H. Canad. med. Ass. J. 1963, 88, 456.
Cells containing 45 chromosomes show a consistent loss of a chromosome from C group (6-12+the X) (fig. 1). Cells with 46 chromosomes show a normal female karyotype (fig. 2), The cell with 44 chromosomes had 2 small autosomes (group D) missing, and the cell with 47 had an extra large autosome (group A). Buccal smears stained by the Feulgen method revealed sex-chromatin in 28% of cells examined.
This
case
shows that chromosomal mosaicism in
a
patient could cause repeated abortion, but this association could have been fortuitous. The demonstration of chromosomal mosaicism in parents of mongols 9-12 suggests that a similar situation may be encountered in other types of congenital anomalies, and possibly in repeated abortion. Further studies of similar cases may help to clarify this
point. A more detailed investigation of this relatives is now being undertaken.
patient and her existing
N. P. BISHUN
P. L. MANNION M. R. NEELY W. R. M. MORTON G. BURKE.
Department of Anatomy, M. N. RASHAD Queen’s University, and Ulster Hospital, Belfast.
CHROMOSOME ENDOREDUPLICATION IN CULTURES OF NECROPSY SPLEEN
SIR,-We were interested to read the letter by Dr. Conen and Dr. Erkman (March 21) on the use of spleen as a source of cells for the examination of chromosomes post mortem. We have been using, for the past year, a somewhat similar technique for thymus and spleen culture. 13 We have observed, however, that the cells in mitosis derived spleen differed from those obtained from blood and thymus in that a higher proportion of cells showed endoreduplication. In a series of over 70 cases in which thymus and spleen were cultured, endoreduplication was found in every splenic culture in proportions varying from 1% to 8% of the cells in mitosis. Although we have occasionally encountered endoreduplication in cultures of blood and thymus, it has never amounted to more than 1 % of the cells in mitosis. If an abnormality of the chromosomes is present-e.g., an extra autosome-this abnormality is also reflected in the cells showing endoreduplication (see figure). Our experience has suggested that the number of cells showing endoreduplication may be related to the gestational age of the fcetus or infant, a higher percentage of such cells being present in fcetuses or very from
Fig. I-Karyotype of cell with 45 chromosomes.
premature infants.
Endoreduplication has been found in cells from the liver of mammals, and it has been suggested that it may be a means by which cells of high specialised function can increase their functional activity without recourse to the 7.
Fig. 2-Karyotype of cell with 46 chromosomes.
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A. Exp. Cell Res. 1960, 20, 613. 8. Robinson, J. S., Bishun, N. P., Rashad, M. N., Morton, W. R. M. Lancet, 1964, i, 328. 9. Blank, C. E., Gemmell, E., Casey, M. D., Lord, M. Brit. med. J. 1962, ii, 378. 10. Smith, D. W., Therman, E. M., Patau, K., Inborn, S. L. Amer. J. Dis, Child. 1962, 104, 534. 11. Weinstein, E. D., Warkany, J. J. Pediat. 1963, 63, 599. 12. Verresen, H., Van Den Berghe, H., Creemers, J. Lancet, 1964, i, 526. 13. Bain, A. D., Gauld, I. K. Brit. J. exp. Path. (in the press).
the possibility of chromosomal aberrations in spontaneous abortion. These were first demonstrated by Penrose and Delhanty.2 Since then many other cases have been described.34 Most of these workers used abortus material or foetal membranes for chromosome studies, but investigation of the parents suggests that a chromosome translocation could contribute to recurrent abortion.5We have recently investigated a patient who had repeated abortions, and in whom chromosome analysis revealed chromosomal mosaicism. on
A woman, aged 21 years, was admitted to hospital for medical induction of labour for which the indication was a hydrocephalic fcetus with spina bifida at 37 weeks. This was the third pregnancy. The first one ended with a stillborn, grossly deformed male. Her second baby was a male who had spina bifida and died after 3 days. 1. 2. 3. 4. 5. 6.
Moorhead et al.,with some modifications, and of Robinson et al.Both cultures were reasonably successful, and from them a total of 61 cells was examined and counted, with the following results:
C. D. HAAGENSEN.
CHROMOSOMAL MOSAICISM IN A CASE OF REPEATED ABORTION
SIR,-Ford1 has speculated
patient was the sixth of a family of ten from thirteen pregnancies, three of which had ended in miscarriages. All members of the sibship died before the age of 5 years except the patient and her brother, who is now 32 years old. Both their parents are now dead. On clinical examination, the patient was apparently healthy. Blood-cultures were set up according to the methods of The
Ford, C. E. Brit. med. Bull. 1961, 17, 1027. Penrose, L. S., Delhanty, J. Lancet, 1961, i, 1261. Carr, D. H. ibid. 1963, ii, 603. Hall, B., Kallen, B. ibid. 1964, i, 110. Schmid, W. Cytogenetics, 1962, 1, 199. Carr, D. H. Canad. med. Ass. J. 1963, 88, 456.
Cells containing 45 chromosomes show a consistent loss of a chromosome from C group (6-12+the X) (fig. 1). Cells with 46 chromosomes show a normal female karyotype (fig. 2), The cell with 44 chromosomes had 2 small autosomes (group D) missing, and the cell with 47 had an extra large autosome (group A). Buccal smears stained by the Feulgen method revealed sex-chromatin in 28% of cells examined.
This
case
shows that chromosomal mosaicism in
a
patient could cause repeated abortion, but this association could have been fortuitous. The demonstration of chromosomal mosaicism in parents of mongols 9-12 suggests that a similar situation may be encountered in other types of congenital anomalies, and possibly in repeated abortion. Further studies of similar cases may help to clarify this
point. A more detailed investigation of this relatives is now being undertaken.
patient and her existing
N. P. BISHUN
P. L. MANNION M. R. NEELY W. R. M. MORTON G. BURKE.
Department of Anatomy, M. N. RASHAD Queen’s University, and Ulster Hospital, Belfast.
CHROMOSOME ENDOREDUPLICATION IN CULTURES OF NECROPSY SPLEEN
SIR,-We were interested to read the letter by Dr. Conen and Dr. Erkman (March 21) on the use of spleen as a source of cells for the examination of chromosomes post mortem. We have been using, for the past year, a somewhat similar technique for thymus and spleen culture. 13 We have observed, however, that the cells in mitosis derived spleen differed from those obtained from blood and thymus in that a higher proportion of cells showed endoreduplication. In a series of over 70 cases in which thymus and spleen were cultured, endoreduplication was found in every splenic culture in proportions varying from 1% to 8% of the cells in mitosis. Although we have occasionally encountered endoreduplication in cultures of blood and thymus, it has never amounted to more than 1 % of the cells in mitosis. If an abnormality of the chromosomes is present-e.g., an extra autosome-this abnormality is also reflected in the cells showing endoreduplication (see figure). Our experience has suggested that the number of cells showing endoreduplication may be related to the gestational age of the fcetus or infant, a higher percentage of such cells being present in fcetuses or very from
Fig. I-Karyotype of cell with 45 chromosomes.
premature infants.
Endoreduplication has been found in cells from the liver of mammals, and it has been suggested that it may be a means by which cells of high specialised function can increase their functional activity without recourse to the 7.
Fig. 2-Karyotype of cell with 46 chromosomes.
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A. Exp. Cell Res. 1960, 20, 613. 8. Robinson, J. S., Bishun, N. P., Rashad, M. N., Morton, W. R. M. Lancet, 1964, i, 328. 9. Blank, C. E., Gemmell, E., Casey, M. D., Lord, M. Brit. med. J. 1962, ii, 378. 10. Smith, D. W., Therman, E. M., Patau, K., Inborn, S. L. Amer. J. Dis, Child. 1962, 104, 534. 11. Weinstein, E. D., Warkany, J. J. Pediat. 1963, 63, 599. 12. Verresen, H., Van Den Berghe, H., Creemers, J. Lancet, 1964, i, 526. 13. Bain, A. D., Gauld, I. K. Brit. J. exp. Path. (in the press).