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PHILADELPHIA-CHROMOSOME TRANSLOCATION AND CHRONIC MYELOID LEUKÆMIA
1250 mal procedure. H202 treatment is not successful if carried in a Coplin jar. Excellent results can also be obtained from preparations up to 1 year old, which without peroxide treatment give very poor bands by the standard trypsin and other methods. Cytogenetics Unit, out
General Infirmary, Salisbury, Wilts.
MARINA SEABRIGHT.
PHILADELPHIA-CHROMOSOME TRANSLOCATION AND CHRONIC MYELOID LEUKÆMIA SiR,—The finding of Rowley1 that in patients with chronic myeloid leukaemia (C.M.L.) the Philadelphia chromosome is the result of translocation of the long arm of no. 22 to the long arm of no. 9, rather than a deletion as had been previously thoughtis worthy of further discussion. If this mechanism is found to be universal as far as the occurrence of Philadelphia chromosome in C.M.L. is concerned, then the relationship of PhI to C.M.L. needs to be revaluated. One of the possible explanations, then, to relate PhI to C.M.L. could be that it is a position effect
The family we have investigated has the type-A deficiency; the level of inhibitor was measured immunologically (Dr D. Ogston). 11 individuals in 3 generations are affected. 2 have died from acute laryngeal cedema after tooth extraction. 2 members were recently admitted with laryngeal redema. They also complained of difficulty in swallowing. Both were treated with fresh frozen plasma, with steady improvement. Within 12 hours the hoarseness and other symptoms had almost completely subsided, instead of lasting the usual 36-48 hours. The patients themselves were in no doubt about its efficacy. 1 patient was receiving no treatment, but the other was included in a trial of aminocaproic acid. At the time of the attack he was receiving placebo. Another individual is also taking part in this trial. It seems that aminocaproic acid, in a dose of 18 g. per day, only reduces the severity and frequency of attacks. The size of the dose and the occurrence of diarrhoea limit its usefulness. Several individuals had been treated for attacks of laryngeal cedema and for oedema elsewhere with antihistamines, adrenaline, and hydrocortisone. All these drugs proved ineffective, the symptoms subsiding spontaneously over 2 days. Full details are being prepared for publication (D. M. Thompson et
al.).
Aberdeen Royal Infirmary,
Foresterhill, Aberdeen AB9 2ZB.
phenomenon.33
Transposition of chromosome segments within a genome are known to cause phenotypic effects in other organisms, but this should be the first such example in man and also first such relationship to neoplasia. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, U.S.A.
ADMISSION OF CHILDREN TO SUBNORMALITY HOSPITALS
SiR,—The admission of
a child to a subnormality other than on a temporary basis may be taken to indicate that his family cannot or will not cope with him any longer. The " tolerance threshold " may be reached because the child requires specialist nursing care, because his behaviour has become too disturbed, because a parent has died, or for many other reasons. We should like to report on an investigation, the seventh in a series of population studies,t-6 in which we attempted to determine whether age-at-admission was related to the patient’s (a) grade of handicap, (b) sex, (c) religion, and (d) social class. In the survey there were 125 cases, all of them children under the age of 17 years on admission. 7% were high grade (i.Q. 50+), 65% were medium grade (I.Q. 20-49), and 27% were low grade (i.Q. 0-19). There is an inverse relationship between grade of mental handicap and age-at-admission.’ Harbison et aU have suggested that society, including the family unit, might be more tolerant towards the female subnormal than the male and that this difference might be reflected in age-atnotification or age-at-admission in hospital cases. Another factor, of perhaps more localised importance, is the religious persuasion of the family involved. The question here was whether the Roman Catholic or the Protestant family was more tolerant of the subnormal. Finally, families of different social classes might show differences in tolerance thresholds. The following is a summary of the findings: (a) The mean ages-at-admission of the high, medium, and low grade children were 13-9, 7-5, and 6-2 years, respectively. The difference between the age-at-admission of the high grade subnormals and those of the other two
hospital DIGAMBER S. BORGAONKAR.
PARTIAL TRISOMY OF CHROMOSOME 15
SIR,-We have lately reported a case of a partial trisomy of chromosome 15.4 We now wish to report a second case of a partial trisomy of chromosome 15. Chromosome prefrom cultures showed a parations peripheral-leucocyte modal count of 47. The supernumerary chromosome was a partially deleted chromosome 15, confirmed by Q-banding. The proband was similar to our first patient. Both were mentally retarded, slender, and hyperactive. Apart from a unilateral esotropia in this patient, there were no distinctive facial features or dermatoglyphic findings. If the lack of physical finding proves consistent in all cases of partial trisomy 15, this will be a difficult abnormality to diagnose
clinically. Divisions of Child Development and Medical Genetics, Children’s Hospital of Los Angeles, and Divisions of Medical Genetics, University of California, Los Angeles, California, U.S.A.
WILLIAM BUCHER CHARLES E. PARKER BARBARA CRANDALL OMAR S. ALFI.
HEREDITARY ANGIONEUROTIC ŒDEMA
SiR,—We write to emphasise the point in your leading article (May 12, p. 1044) regarding the efficacy of fresh frozen plasma in the acute attacks of hereditary angioneurotic aedema.5
grades was significant (r < 0-001). (b) Although the boys’ mean age-at-admission was lower (7 years) than the girls’ (8-2 years), the difference was not significant. (c) 60% of the children were Protestant, the rest Roman Catholic. The mean age-at-admission for both groups was Harbison, J. J. M., Mackay, D. N., Weir, T. W. H. Ir. J. med. Sci. 1967, 6, 421. 2. Mackay, D. N. Lancet, 1971, i, 1357. 3. Mackay, D. N. J. ment. Defic. Res. 1971, 15, 12. 4. Mackay, D. N., Harbison, J. J. M. Ulster med. J. 1970, 39, 135. 5. McCurley, R., Mackay, D. N., Scally, B. G. J. ment. Defic. Res. 1972, 16, 57. 6. Elliott, R., Mackay, D. N. Br. J. Subnorm. 1971, 17, 48. 7. Windle, C. Am. J. ment. Defic. 1962, 66, suppl. 5. 1.
1. 2. 3.
4. 5.
A. W. JOHNSTON R. A. MAIN.
Rowley, J. D. Meeting of American Society for Clinical Investigation, Atlantic City, N.J. Nature (in the press). Rudkin, G. T., Hungerford, D. A. Science, 1964, 144, 1229. Swanson, C. P. Cytology and Cytogenetics; p. 437. Englewood Cliffs, N.J., 1957. Parker, C. E., Alfi, O. Lancet, 1972, i, 1073. Beck, P., Wills, D., Davies, G. T., Lachmann, P. J., Sussman, M. Q. Jl. Med. 1973, 42, 317.
General Infirmary, Salisbury, Wilts.
MARINA SEABRIGHT.
PHILADELPHIA-CHROMOSOME TRANSLOCATION AND CHRONIC MYELOID LEUKÆMIA SiR,—The finding of Rowley1 that in patients with chronic myeloid leukaemia (C.M.L.) the Philadelphia chromosome is the result of translocation of the long arm of no. 22 to the long arm of no. 9, rather than a deletion as had been previously thoughtis worthy of further discussion. If this mechanism is found to be universal as far as the occurrence of Philadelphia chromosome in C.M.L. is concerned, then the relationship of PhI to C.M.L. needs to be revaluated. One of the possible explanations, then, to relate PhI to C.M.L. could be that it is a position effect
The family we have investigated has the type-A deficiency; the level of inhibitor was measured immunologically (Dr D. Ogston). 11 individuals in 3 generations are affected. 2 have died from acute laryngeal cedema after tooth extraction. 2 members were recently admitted with laryngeal redema. They also complained of difficulty in swallowing. Both were treated with fresh frozen plasma, with steady improvement. Within 12 hours the hoarseness and other symptoms had almost completely subsided, instead of lasting the usual 36-48 hours. The patients themselves were in no doubt about its efficacy. 1 patient was receiving no treatment, but the other was included in a trial of aminocaproic acid. At the time of the attack he was receiving placebo. Another individual is also taking part in this trial. It seems that aminocaproic acid, in a dose of 18 g. per day, only reduces the severity and frequency of attacks. The size of the dose and the occurrence of diarrhoea limit its usefulness. Several individuals had been treated for attacks of laryngeal cedema and for oedema elsewhere with antihistamines, adrenaline, and hydrocortisone. All these drugs proved ineffective, the symptoms subsiding spontaneously over 2 days. Full details are being prepared for publication (D. M. Thompson et
al.).
Aberdeen Royal Infirmary,
Foresterhill, Aberdeen AB9 2ZB.
phenomenon.33
Transposition of chromosome segments within a genome are known to cause phenotypic effects in other organisms, but this should be the first such example in man and also first such relationship to neoplasia. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, U.S.A.
ADMISSION OF CHILDREN TO SUBNORMALITY HOSPITALS
SiR,—The admission of
a child to a subnormality other than on a temporary basis may be taken to indicate that his family cannot or will not cope with him any longer. The " tolerance threshold " may be reached because the child requires specialist nursing care, because his behaviour has become too disturbed, because a parent has died, or for many other reasons. We should like to report on an investigation, the seventh in a series of population studies,t-6 in which we attempted to determine whether age-at-admission was related to the patient’s (a) grade of handicap, (b) sex, (c) religion, and (d) social class. In the survey there were 125 cases, all of them children under the age of 17 years on admission. 7% were high grade (i.Q. 50+), 65% were medium grade (I.Q. 20-49), and 27% were low grade (i.Q. 0-19). There is an inverse relationship between grade of mental handicap and age-at-admission.’ Harbison et aU have suggested that society, including the family unit, might be more tolerant towards the female subnormal than the male and that this difference might be reflected in age-atnotification or age-at-admission in hospital cases. Another factor, of perhaps more localised importance, is the religious persuasion of the family involved. The question here was whether the Roman Catholic or the Protestant family was more tolerant of the subnormal. Finally, families of different social classes might show differences in tolerance thresholds. The following is a summary of the findings: (a) The mean ages-at-admission of the high, medium, and low grade children were 13-9, 7-5, and 6-2 years, respectively. The difference between the age-at-admission of the high grade subnormals and those of the other two
hospital DIGAMBER S. BORGAONKAR.
PARTIAL TRISOMY OF CHROMOSOME 15
SIR,-We have lately reported a case of a partial trisomy of chromosome 15.4 We now wish to report a second case of a partial trisomy of chromosome 15. Chromosome prefrom cultures showed a parations peripheral-leucocyte modal count of 47. The supernumerary chromosome was a partially deleted chromosome 15, confirmed by Q-banding. The proband was similar to our first patient. Both were mentally retarded, slender, and hyperactive. Apart from a unilateral esotropia in this patient, there were no distinctive facial features or dermatoglyphic findings. If the lack of physical finding proves consistent in all cases of partial trisomy 15, this will be a difficult abnormality to diagnose
clinically. Divisions of Child Development and Medical Genetics, Children’s Hospital of Los Angeles, and Divisions of Medical Genetics, University of California, Los Angeles, California, U.S.A.
WILLIAM BUCHER CHARLES E. PARKER BARBARA CRANDALL OMAR S. ALFI.
HEREDITARY ANGIONEUROTIC ŒDEMA
SiR,—We write to emphasise the point in your leading article (May 12, p. 1044) regarding the efficacy of fresh frozen plasma in the acute attacks of hereditary angioneurotic aedema.5
grades was significant (r < 0-001). (b) Although the boys’ mean age-at-admission was lower (7 years) than the girls’ (8-2 years), the difference was not significant. (c) 60% of the children were Protestant, the rest Roman Catholic. The mean age-at-admission for both groups was Harbison, J. J. M., Mackay, D. N., Weir, T. W. H. Ir. J. med. Sci. 1967, 6, 421. 2. Mackay, D. N. Lancet, 1971, i, 1357. 3. Mackay, D. N. J. ment. Defic. Res. 1971, 15, 12. 4. Mackay, D. N., Harbison, J. J. M. Ulster med. J. 1970, 39, 135. 5. McCurley, R., Mackay, D. N., Scally, B. G. J. ment. Defic. Res. 1972, 16, 57. 6. Elliott, R., Mackay, D. N. Br. J. Subnorm. 1971, 17, 48. 7. Windle, C. Am. J. ment. Defic. 1962, 66, suppl. 5. 1.
1. 2. 3.
4. 5.
A. W. JOHNSTON R. A. MAIN.
Rowley, J. D. Meeting of American Society for Clinical Investigation, Atlantic City, N.J. Nature (in the press). Rudkin, G. T., Hungerford, D. A. Science, 1964, 144, 1229. Swanson, C. P. Cytology and Cytogenetics; p. 437. Englewood Cliffs, N.J., 1957. Parker, C. E., Alfi, O. Lancet, 1972, i, 1073. Beck, P., Wills, D., Davies, G. T., Lachmann, P. J., Sussman, M. Q. Jl. Med. 1973, 42, 317.