- Email: [email protected]
KLINEFELTER'S SYNDROME WITH PULMONARY DISEASE AND OTHER DISORDERS
419
of bone-marrow after 6 weeks of busulphan therapy revealed the PhI chromosome. Our case and that of Heath and Moloney clearly show that chronic granulocytic leukaemia with the Philadelphia chromosome may be associated with normal or increased levels of L.A.P. Thus, inflammatory stimuli as well as acute transformation of the leukaemic status may result in elevation of L.A.P. Such findings confirm the suggestion of King and her group that there is no simple gene-dose effect involving chromosome 21 and L.A.P.; probably at best, modifiers of L.A.n. may be located on this chromosome. This work was supported in part by the American Cancer Society (Western Division) grant no. 285C-1, and in part by the National Institutes of Health general research support grant no. 107-305, City of Hope Medical Center. R. L. TEPLITZ Departments of Pathology and Pediatrics, R. B. ROSEN City of Hope Medical Center, M. R. TEPLITZ. Duarte, California, U.S.A. CHROMOSOMAL ENDOREDUPLICATION IN COARCTATION OF THE AORTA
SIR,-Endoreduplication of chromosomes has been reported in several conditions, with the use of different techniques for culturing lymphoid cells. In a case of translocation of 15/21 familial mongolism, Biesele et aLl were the first to demonstrate endoreduplication of chromosomes. Bottura and Ferrari2 described endoreduplication in blood disorders, such as acute myeloblastic leukaemia, and Reisman et al. reported endoreduplication in acute monocytic leukasmia. Recently Aspillaga et al. reported a case of testicular feminisation in which there was endoreduplication of chromosomes. Endoreduplication has been artificially produced by Ohnuki et al. in cultures of human leucocytes by means of various forms of ionising radiation, and a higher frequency of endoreduplication of chromosomes has been reported by Bain and Gauldin cultures from spleen than the 1 % seen in peripheral blood or thymus. These workers suggested that the amount of endoreduplication in cells was directly related to the immaturity of the foetus. Endoreduplication or inter-reduplication, according to Hsu and Moorhead,is a process of polyploidisation that occurs during interphase as the reduplicated cell enters in mitosis, diplochromosomes are observed.
We report here of the aorta.
endoreduplication in a case of coarctation
The patient was a 12-year-old girl with a normal female habitus, with a height of 126 cm. and weight of 24-5 kg. (normal for a 9-year-old child). No signs of onset of puberty were apparent. Rectal examination revealed a normal prepuberal uterus. The patient had an enlarged thyroid considered to be a euthyroid goitre. No radioactive iodine studies were carried out, and the X-ray exposures were those routinely used for the diagnosis of coarctation of the aorta. The patient had congestive heart-failure, and after supportive treatment underwent correction of the coarctation. No other congenital abnormalities were found on clinical examination. At operation a small focus of tuberculosis of the left lung and tuberculous hilar lymph-nodes were removed. Because of the short stature of the patient and the congenital vascular anomaly, sex-chromatin studies and peripheral-blood cultures by a modification of the method of Moorhead et al. were carried out three and a half months after operation. Sex-chromatin was present in 25 % of the nuclei of epithelial cells from the oral mucosa. 65 metaphases were suitable for 1. 2.
3. 4. 5. 6. 7.
Biesele, J. J., Schmid, W., Lee, C. H., Smith, P. M. Amer. J. hum. Genet. 1962, 14, 125. Bottura, C., Ferrari, I. Blood, 1963, 21, 207. Reisman, L. E., Zuelzer, W. W., Mitani, M. Lancet, 1963, ii, 1038. Aspillaga, M. J., Neu, R. L., Gardner, L. I. ibid. 1964, i, 937. Ohnuki, Y., Awa, A., Pomerat, C. M. Ann. N.Y. Acad. Sci. 1961, 95, 882. Bain, A. D., Gauld, I. K. Lancet, 1964, i, 936. Hsu, T. C., Moorhead, P. S. Ann. N.Y. Acad. Sci. 1956, 63, 1083.
chromosome counts, and all had a modal number of 46 with a normal karyotype. 7 mitoses were found with polyploidy of 92 chromosomes. Only 1 of these had 23 pairs of diplochromosomes. The other 6 mitoses were also in metaphase, and the chromosomes were considered to be separated as the result of colchicine acting on the endoreduplicated cells.
In this case of coarctation of the aorta and short stature, there was endoreduplication in peripheral blood with normal chromosomal constitution. The aetiology of polyploidy in cultured peripheral white blood-cells remains a
Unidad de Patología, Facultad de Medicina de la Universidad Nacional Autónoma de México, en el Hospital General, Mexico. Hospital Infantil de México, México 7, D. F., Mexico.
HÉCTOR MÁRQUEZ-MONTER SILVIA BENÍTEZ-GURROLA.
CÉSAR CHAVARRÍA.
KLINEFELTER’S SYNDROME WITH PULMONARY DISEASE AND OTHER DISORDERS
SIR,-We wish to thank Dr. Rohde for his comments (July 18) and for drawing attention to an error in our table of patients with Klinefelter’s syndrome (June 27). The pubis-to-sole length in case E is incorrectly given as 61
cm.
The
correct
nsure is 86
Department of Medicine, Royal Hospital, Sheffield.
cm.
J. J. DALY D. F. RICKARDS.
SIR,-In their letter (June 27) Dr. Daly and Dr. Rickards reported six cases of Klinefelter’s syndrome with asthma, and they refer to previous observations of the syndrome which were associated with mongolism, acute leukaemia, or mental disorder. We wish to report here the finding of a case of Klinefelter’s syndrome with acute intermittent porphyria. The probability of a random coincidence in Sweden of these two disorders can be estimated at less than 1/6,000,000 for males (the ratio male/ female for acute intermittent porphyria is 2/3). We also know of a case of XO lXX/XXX mosaicism associated with porphyria, and we wish to raise the question whether these coincidences could be a result of causal factors. For this reason we should be interested to hear whether the combination of aneuploidy and acute intermittent porphyria has been observed by anyone else. to
We thank Prof. N. Tornblom and Dr. P. Wiklund for report the case under their care.
permission
POSTURAL ŒDEMA IN THE ELDERLY SiR,Ł(Edema of the legs and ankles is very common in elderly people. Although often associated with renal or cardiac disease, it does not always disappear when these
diseases
are
treated.
In many other cases there is no evidence of systemic disease causing oedema. Thus oedema in aged people commonly is
of bone-marrow after 6 weeks of busulphan therapy revealed the PhI chromosome. Our case and that of Heath and Moloney clearly show that chronic granulocytic leukaemia with the Philadelphia chromosome may be associated with normal or increased levels of L.A.P. Thus, inflammatory stimuli as well as acute transformation of the leukaemic status may result in elevation of L.A.P. Such findings confirm the suggestion of King and her group that there is no simple gene-dose effect involving chromosome 21 and L.A.P.; probably at best, modifiers of L.A.n. may be located on this chromosome. This work was supported in part by the American Cancer Society (Western Division) grant no. 285C-1, and in part by the National Institutes of Health general research support grant no. 107-305, City of Hope Medical Center. R. L. TEPLITZ Departments of Pathology and Pediatrics, R. B. ROSEN City of Hope Medical Center, M. R. TEPLITZ. Duarte, California, U.S.A. CHROMOSOMAL ENDOREDUPLICATION IN COARCTATION OF THE AORTA
SIR,-Endoreduplication of chromosomes has been reported in several conditions, with the use of different techniques for culturing lymphoid cells. In a case of translocation of 15/21 familial mongolism, Biesele et aLl were the first to demonstrate endoreduplication of chromosomes. Bottura and Ferrari2 described endoreduplication in blood disorders, such as acute myeloblastic leukaemia, and Reisman et al. reported endoreduplication in acute monocytic leukasmia. Recently Aspillaga et al. reported a case of testicular feminisation in which there was endoreduplication of chromosomes. Endoreduplication has been artificially produced by Ohnuki et al. in cultures of human leucocytes by means of various forms of ionising radiation, and a higher frequency of endoreduplication of chromosomes has been reported by Bain and Gauldin cultures from spleen than the 1 % seen in peripheral blood or thymus. These workers suggested that the amount of endoreduplication in cells was directly related to the immaturity of the foetus. Endoreduplication or inter-reduplication, according to Hsu and Moorhead,is a process of polyploidisation that occurs during interphase as the reduplicated cell enters in mitosis, diplochromosomes are observed.
We report here of the aorta.
endoreduplication in a case of coarctation
The patient was a 12-year-old girl with a normal female habitus, with a height of 126 cm. and weight of 24-5 kg. (normal for a 9-year-old child). No signs of onset of puberty were apparent. Rectal examination revealed a normal prepuberal uterus. The patient had an enlarged thyroid considered to be a euthyroid goitre. No radioactive iodine studies were carried out, and the X-ray exposures were those routinely used for the diagnosis of coarctation of the aorta. The patient had congestive heart-failure, and after supportive treatment underwent correction of the coarctation. No other congenital abnormalities were found on clinical examination. At operation a small focus of tuberculosis of the left lung and tuberculous hilar lymph-nodes were removed. Because of the short stature of the patient and the congenital vascular anomaly, sex-chromatin studies and peripheral-blood cultures by a modification of the method of Moorhead et al. were carried out three and a half months after operation. Sex-chromatin was present in 25 % of the nuclei of epithelial cells from the oral mucosa. 65 metaphases were suitable for 1. 2.
3. 4. 5. 6. 7.
Biesele, J. J., Schmid, W., Lee, C. H., Smith, P. M. Amer. J. hum. Genet. 1962, 14, 125. Bottura, C., Ferrari, I. Blood, 1963, 21, 207. Reisman, L. E., Zuelzer, W. W., Mitani, M. Lancet, 1963, ii, 1038. Aspillaga, M. J., Neu, R. L., Gardner, L. I. ibid. 1964, i, 937. Ohnuki, Y., Awa, A., Pomerat, C. M. Ann. N.Y. Acad. Sci. 1961, 95, 882. Bain, A. D., Gauld, I. K. Lancet, 1964, i, 936. Hsu, T. C., Moorhead, P. S. Ann. N.Y. Acad. Sci. 1956, 63, 1083.
chromosome counts, and all had a modal number of 46 with a normal karyotype. 7 mitoses were found with polyploidy of 92 chromosomes. Only 1 of these had 23 pairs of diplochromosomes. The other 6 mitoses were also in metaphase, and the chromosomes were considered to be separated as the result of colchicine acting on the endoreduplicated cells.
In this case of coarctation of the aorta and short stature, there was endoreduplication in peripheral blood with normal chromosomal constitution. The aetiology of polyploidy in cultured peripheral white blood-cells remains a
Unidad de Patología, Facultad de Medicina de la Universidad Nacional Autónoma de México, en el Hospital General, Mexico. Hospital Infantil de México, México 7, D. F., Mexico.
HÉCTOR MÁRQUEZ-MONTER SILVIA BENÍTEZ-GURROLA.
CÉSAR CHAVARRÍA.
KLINEFELTER’S SYNDROME WITH PULMONARY DISEASE AND OTHER DISORDERS
SIR,-We wish to thank Dr. Rohde for his comments (July 18) and for drawing attention to an error in our table of patients with Klinefelter’s syndrome (June 27). The pubis-to-sole length in case E is incorrectly given as 61
cm.
The
correct
nsure is 86
Department of Medicine, Royal Hospital, Sheffield.
cm.
J. J. DALY D. F. RICKARDS.
SIR,-In their letter (June 27) Dr. Daly and Dr. Rickards reported six cases of Klinefelter’s syndrome with asthma, and they refer to previous observations of the syndrome which were associated with mongolism, acute leukaemia, or mental disorder. We wish to report here the finding of a case of Klinefelter’s syndrome with acute intermittent porphyria. The probability of a random coincidence in Sweden of these two disorders can be estimated at less than 1/6,000,000 for males (the ratio male/ female for acute intermittent porphyria is 2/3). We also know of a case of XO lXX/XXX mosaicism associated with porphyria, and we wish to raise the question whether these coincidences could be a result of causal factors. For this reason we should be interested to hear whether the combination of aneuploidy and acute intermittent porphyria has been observed by anyone else. to
We thank Prof. N. Tornblom and Dr. P. Wiklund for report the case under their care.
permission
POSTURAL ŒDEMA IN THE ELDERLY SiR,Ł(Edema of the legs and ankles is very common in elderly people. Although often associated with renal or cardiac disease, it does not always disappear when these
diseases
are
treated.
In many other cases there is no evidence of systemic disease causing oedema. Thus oedema in aged people commonly is