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X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME
210 We conclude, as do Hecht et al.,’ Bocian et al.,2 and Stoll et al.,3 that deletion of most of the long arm of an X chromosome can lead to some signs of Turner’s syndrome—most notably short stature and primary amerorrhœa—and we thus concur with the notion 1,2 that earlier concepts4 of the involvement of X-chromosome deletions in ovarian dysgenesis may need revision. Minnesota Department of Health, 717 Delaware Street S.E., Minneapolis 55440.
MALCOLM B.
Austin Clinic, Austin, Minnesota 53912.
Cytogenetics and Cytology Section, Biology Branch, Division of Cancer Cause and Prevention, 1. 2. 3. 4.
5. 6. 7.
N. C. POPESCU
National Cancer Institute, J. A. DIPAOLO. Bethesda, Maryland 20014. Paris Conference. Standardisation in Human Cytogenetics. Birth Defects: Original Article Series, 1972, vol. VIII, no. 7. Popescu, N. C., DiPaolo, J. A. Cytogenetics, 1972, 11, 50. Hsu, T. C., Pathak, S., Schafer, D. A. Exp. Cell Res. 1973, 78, 484. Meisner, L. F., Chuprevich, T. W., Inhorn, S. L. Lancet, 1973,
W. J. O’ROURKE.
1. Hecht, F., Jones, D. L., Delay, M., Klevit, H. J. nzed. Genet. 1970, 7, 1. 2. Bocian, M., Krmpotic, E., Szego, K., Rosenthal, 1. M. ibid. 1971, 8,358. 3. Stoll, C., Muller, P., Delienbach, P. Larcet, 1973, i, 436. 4. Lancer, 1965, ii, 529.
Fig. 2-Pairs 1, 9 and 16 and Y chromosome from a human karyotype; G band obtained with hydroxyurea added to living lymphocytes and C bands obtained with B.S.G. technique on
cells (fig. lAB) had a heavy label pattern characteristic oj cells exposed to H-thymidine in the middle of the S period, For sequential banding, slides containing G bands wen destained, washed, dried, and reprocessed for C bands.’{ Human dual-banded karyotypes were prepared. Chromosomes with secondary-constriction heterochromatin anc the Y chromosome are shown with G and C bands in the same chromosomes (fig. 2). Although the processes involved in the formation of bands in chromosomes may be different for living cells and for fixed chromosomes, the resulting bands are similar. It has been concluded that most G-band techniques for fixed chromosomes remove an insignificant amount of protein from chromosomes and approximately 9% of the chromosomal D.N.A.’ Hydroxyurea inhibits D.N.A. synthesis but has little or no immediate effect on R.N.A. or protein synthesis. Hydroxyurea may cause a loss in chromosomal D.N.A. and consequently a loss also of certain associated proteins which ultimately may be required for chromosome condensation. These changes may affect the normal coiling process of the chromosomes and thus produce the bands observed.
JENKINS.
HORIZONTAL TRANSMISSION OF LEUKÆMIA SIR—Since the report ot seven cases ot acute childhood leukaemia in a school on the outskirts of Chicago between 1957 and 1960,1 aggregations of this disease have been a matter of controversy. Three cases on the North Shore area of Vancouver diagnosed within one month in the winter of 1968-69 prompted a review of our hospital records. This hospital serves a clearly defined enclosed but expanding suburban population of about 100,000 on the North Shore of Burrard Inlet, at the foot of a mountain
ridge. Eighteen cases of acute leukaemia (letters on accompanying map) occurred in the prepubertal age-group between October, 1958, and October, 1973. Eight of these children acquired the disease within one year of changing domicile.
Six of them
were
in
an
older
area
of town within
3/4-mile radius. There was no pairing by year of diagnosis within this group, cases occurring irregularly over a 10-year period. The aggregation may well have been fortuitous. (Two further cases in this area had been diagnosed elsewhere, and the population seems to have been unusually mobile.) Review of all new cases of childhood diabetes admitted to the hospital over the same period, 1959-73, a
revealed that 7 of 59 families had moved house within 1 year previously; only 1 of these cases was within the above-mentioned area. It is interesting that 8 cases of the total leukæmia group should occur within 1 year of changing
domicile.
i, 1509. McKenzie, W. H., Lubs, H. A. Chromosoma, 1973, 41, 175. Sumner, A. Exp. Cell Res. 1972, 75, 304. Comings, D., Avelino, E., Okada, T., Wyandt, H. ibid. 1973, 77,
469.
X LONG-ARM DELETION WITH FEATURES OF TURNER’S SYNDROME to report a case of presumed of the X chromosome with some characteristics of Turner’s syndrome. The patient is a 23-year-old woman who presented with The only physical a history of primary amenorrhœa. abnormalities were short stature (height 56 in.) and moderate
SIR,-We should like
partial long-arm deletion
obesity. karyotype of cultured leucocytes was interpreted 46,XXq-. The orcein-stained E-group chromosomes are shown with the presumed X chromosomes (see figure). The
as
Examination of 86 cells failed to demonstrate a definite exception to this pattern. One cell with a 45,X complement was seen among several missing a chromosome, but the marker was too similar to chromosome no. 18 to permit identification of the missing element, and this cell was probably an artefact. Fluorescent staining substantiated the Xq- interpretation. The patient was unfortunately not amenable to further studies.
E-group chromosomes of (mar) and normal X.
4
cells, with marker chromosome
MALCOLM B.
Austin Clinic, Austin, Minnesota 53912.
Cytogenetics and Cytology Section, Biology Branch, Division of Cancer Cause and Prevention, 1. 2. 3. 4.
5. 6. 7.
N. C. POPESCU
National Cancer Institute, J. A. DIPAOLO. Bethesda, Maryland 20014. Paris Conference. Standardisation in Human Cytogenetics. Birth Defects: Original Article Series, 1972, vol. VIII, no. 7. Popescu, N. C., DiPaolo, J. A. Cytogenetics, 1972, 11, 50. Hsu, T. C., Pathak, S., Schafer, D. A. Exp. Cell Res. 1973, 78, 484. Meisner, L. F., Chuprevich, T. W., Inhorn, S. L. Lancet, 1973,
W. J. O’ROURKE.
1. Hecht, F., Jones, D. L., Delay, M., Klevit, H. J. nzed. Genet. 1970, 7, 1. 2. Bocian, M., Krmpotic, E., Szego, K., Rosenthal, 1. M. ibid. 1971, 8,358. 3. Stoll, C., Muller, P., Delienbach, P. Larcet, 1973, i, 436. 4. Lancer, 1965, ii, 529.
Fig. 2-Pairs 1, 9 and 16 and Y chromosome from a human karyotype; G band obtained with hydroxyurea added to living lymphocytes and C bands obtained with B.S.G. technique on
cells (fig. lAB) had a heavy label pattern characteristic oj cells exposed to H-thymidine in the middle of the S period, For sequential banding, slides containing G bands wen destained, washed, dried, and reprocessed for C bands.’{ Human dual-banded karyotypes were prepared. Chromosomes with secondary-constriction heterochromatin anc the Y chromosome are shown with G and C bands in the same chromosomes (fig. 2). Although the processes involved in the formation of bands in chromosomes may be different for living cells and for fixed chromosomes, the resulting bands are similar. It has been concluded that most G-band techniques for fixed chromosomes remove an insignificant amount of protein from chromosomes and approximately 9% of the chromosomal D.N.A.’ Hydroxyurea inhibits D.N.A. synthesis but has little or no immediate effect on R.N.A. or protein synthesis. Hydroxyurea may cause a loss in chromosomal D.N.A. and consequently a loss also of certain associated proteins which ultimately may be required for chromosome condensation. These changes may affect the normal coiling process of the chromosomes and thus produce the bands observed.
JENKINS.
HORIZONTAL TRANSMISSION OF LEUKÆMIA SIR—Since the report ot seven cases ot acute childhood leukaemia in a school on the outskirts of Chicago between 1957 and 1960,1 aggregations of this disease have been a matter of controversy. Three cases on the North Shore area of Vancouver diagnosed within one month in the winter of 1968-69 prompted a review of our hospital records. This hospital serves a clearly defined enclosed but expanding suburban population of about 100,000 on the North Shore of Burrard Inlet, at the foot of a mountain
ridge. Eighteen cases of acute leukaemia (letters on accompanying map) occurred in the prepubertal age-group between October, 1958, and October, 1973. Eight of these children acquired the disease within one year of changing domicile.
Six of them
were
in
an
older
area
of town within
3/4-mile radius. There was no pairing by year of diagnosis within this group, cases occurring irregularly over a 10-year period. The aggregation may well have been fortuitous. (Two further cases in this area had been diagnosed elsewhere, and the population seems to have been unusually mobile.) Review of all new cases of childhood diabetes admitted to the hospital over the same period, 1959-73, a
revealed that 7 of 59 families had moved house within 1 year previously; only 1 of these cases was within the above-mentioned area. It is interesting that 8 cases of the total leukæmia group should occur within 1 year of changing
domicile.
i, 1509. McKenzie, W. H., Lubs, H. A. Chromosoma, 1973, 41, 175. Sumner, A. Exp. Cell Res. 1972, 75, 304. Comings, D., Avelino, E., Okada, T., Wyandt, H. ibid. 1973, 77,
469.
X LONG-ARM DELETION WITH FEATURES OF TURNER’S SYNDROME to report a case of presumed of the X chromosome with some characteristics of Turner’s syndrome. The patient is a 23-year-old woman who presented with The only physical a history of primary amenorrhœa. abnormalities were short stature (height 56 in.) and moderate
SIR,-We should like
partial long-arm deletion
obesity. karyotype of cultured leucocytes was interpreted 46,XXq-. The orcein-stained E-group chromosomes are shown with the presumed X chromosomes (see figure). The
as
Examination of 86 cells failed to demonstrate a definite exception to this pattern. One cell with a 45,X complement was seen among several missing a chromosome, but the marker was too similar to chromosome no. 18 to permit identification of the missing element, and this cell was probably an artefact. Fluorescent staining substantiated the Xq- interpretation. The patient was unfortunately not amenable to further studies.
E-group chromosomes of (mar) and normal X.
4
cells, with marker chromosome