1450 published) has also found a typical female karyotype in three chromatin-positive true hermaphrodites. Nevertheless, it is possible, and from our...

165KB Sizes 4 Downloads 57 Views


published) has also found a typical female karyotype in three chromatin-positive true hermaphrodites. Nevertheless, it is possible, and from our viewpoint probable, that some of these patients will exhibit XXY/XX mosaicism when more than one tissue is studied. We do not, of course, mean to imply that abnormal chromosome numbers, or other chromosomal abnormalities, can account for all the abnormalities of sex differentiation. KURT HIRSCHHORN Department of Medicine, New York University HERBERT L. COOPER. Medical Center. Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons.




SIR,-Mr. Hayward and Dr. Bower (Oct. 15) described trisomy in the 22nd pair of chromosomes in a case of the Sturge-Weber syndrome, and we therefore examined cytogenetically two patients with this syndrome, a girl of 17 and




of 18.

20 cells, 10 with 46 chromosomes and 10 with 45 chromosomes, the chromosomes were analysed in detail. In each of the 10 cells containing 46 chromosomes 5 small acrocentric chromosomes were present and the chromosome complement was not demonstrably different from that observed in normal males. In each of the cells containing 45 chromosomes only 4 small acrocentrics were noted. The acrocentric missing from the cell with 45 chromosomes is presumed to be the Y chromosome and the patient an XY/XO mosaic. Thirty-three years ago a laparotomy was performed to determine the cause of persistent lower abdominal pain. At that time it was noted that there was evidence of chronic pelvic inflammation, of uncertain xtiology, a very small uterus and a small ovary on the left side. No gonad could be identified on the right side. Sections of the left gonad were not taken. A more complete description of the findings in this patient will be reported later. The research reported here is part of a programme supported by a

grant from the Medical Research Council.

Both had earlier been


thoroughly investigated clinically. We studied the chromosomes of


leucocytes from

circulating blood, using a slight modification of the technique described by Hungerford et aLl In the first case we got a large number of mitoses of good quality, which permitted chromosome counting and thorough pairing. In the second case we got 5 mitoses which allowed counting only. In both cases the number of chromosomes was 46 and in the first case the idiogram was normal. Thus, though trisomy of no. 22 has been reported in the Sturge-Weber syndrome, apparently it is not always present. This is as you surmised in your leading article of

SIR,-Dr. Gemmill and Dr. Manderson described




SIR,-Hirschhorn and his colleagues2 briefly described a case of true hermaphroditism. The was a three-month-old infant with a phallus, patient and an ovotestis. vagina, hypospadias, Analysis of the chromosome complement of cells grown from bonemarrow indicated XY/XO mosaicism. We should like to report a second example of presumed XY/XO mosaicism. A 55-year-old " woman " presented with a psychosomatic disorder of the left upper limb. A history of primary amenorrhoea stimulated investigation of sex-chromatin state and karyotype. She seemed to be well below average intelligence. She was short, rather plump, and had a short neck. Her breasts were poorly developed, her chest broad, and her hips narrow. A right paramedian scar was present on her lower abdomen. Axillary and pubic hair were present and of female distritheir findings in

bution. The external genitalia were of female type. The clitoris was fairly long but the vaginal introitus was small. A small cervix could be felt rectally. Well-defined sex-chromatin bodies could not be detected in buccal mucosa preparations. No nuclear appendages of female type were noted in 510 polymorphonuclear leucocytes examined. Leucocytes derived from peripheral blood were cultured for three days and prepared for chromosome analysis. The chromosomes in 100 suitable cells were counted: 58 cells contained 46 chromosomes and 41 contained 45 chromosomes. In

of mussel poisoning in your issue of Aug. 6. We ourselves process mussels and finally vacuum-pack in jars containing a 4% spirit vinegar solution, and we are naturally anxious to know whether the bacteria concerned can survive the processing of cooking for 10 minutes at 1Kf)°P anrl final rtaflratymcr in cnirit B7Hiptyar

J. E. BOZMAN Director, Maconochie Kippers Ltd.


SIR,-The letter by Dr. Barker and Dr. Kerr (Dec. 10) illustrates how tragically the sub-disciplines-within the discipline of medicine are diverging as specialisation

necessarily develops. The extrapyramidal phenothiazine syndrome, which evidently appears as a devastating experience to a casualtyofficer, is part of the bread-and-butter of a psychiatric nurse.


In view of the effort in their letter to enlighten officers who may meet this condition, there are a few observations of our own which we feel we could profitably add. (1) Unequivocal extrapyramidal signs can arise with a

trifluoperazine intake as low as 6 mg. a day, and a dystonicdyskinetic syndrome at least as well developed as that described may be seen on a dosage of 20 mg. a day. This presentation is therefore not necessarily a prelude to death. (2) It does not seem to us that death was possible with a dose of 140 mg. In acute experiments in rats, trifluoperazine has about a quarter of the toxicity of chlorpromazine, and its oral L.D.5o is 1150 mg. per kg.! If man is comparable, the L.D.,, of a 10-stone specimen would be of the order of 70,000 mg. Rudy et at speaking of man, said " dosage ... did not exceed 30 mgm. 4 times a day.", and do not imply that at 120 mg. a day, in a chronic study with a cumulative drug, they are approaching toxic levels. (3) Caffeine benzoate was formerly advocated by Freyhan3 to counter extrapyramidal symptoms, but has not been generally used for at least two years, having been superseded by other agents. As Dr. Barker and Dr. Kerr 1.

A., Donnelly, A. J., Nowell, P. C., Beck, S. Amer. J. hum. Genet. 1959, 11, 215. 2. Hirschhorn, K., Decker, W. H., Cooper, H. L. Lancet, Aug. 6, 1960, p. 319. 1.




Nov. 12. Pediatric Department and Institutes of Histology and Social Medicine, University of Gothenburg, Sweden.


Department of Genetics, University of Sheffield, and Royal Infirmary,


2. 3.


oertinentiv observe. the

Tedeschi, D. H., Spencer, J. N., Macko, F., Tedeschi, R. E., Leonard, C. A., McLean, R. A., Flanagan, T., Cook, L., Mattis, P. A., Fellows, E. J. in Trifluoperazine; p. 29. Philadelphia, 1958. Rudy, L. H., Himwich, H. E., Costa, E., Rinaldi, F. ibid. p. 169. Freyhan, F. A. ibid. p. 203.