333

there

was increased number of sIgG bearing cells, E-rosette formation and P.H.A. transformation, depressed normal E.A.C.-rosette formation. Only in 1 case (stage iv, mixed cellularity), could we note in the spleen a high percentage of E-rosette-forming cells (96%, after 12 hours of incubation with sheep erythrocytes) in contrast with the percentage found in peripheral blood which was, as in the other cases, low (20%). The lysate of the spleen cells

case

(containing IgG) " spotted ", on immunofluorescence, a high

number of normal T lymphocytes. In the 6 lymph-nodes studied (all of patients in stage in, 2 with mixed cellularity, 4 with lymphocyte depletion) the same variables showed no significant differences from the peripheral lymphocytes which exhibited the behaviour usually found in Hodgkin’s disease. (The lymph-node of the patient with a high percentage of E-rosette-forming cells in the spleen was not available for study.) Many data are accumulating pointing to the existence of abnormal immunological mechanisms in Hodgkin’s disease. In particular, the presence of anti-T cytotoxins both in the serum and on the surface of lymphocytes which we demonstrated supports the hypothesis that an interlymphocyte struggle is taking place, as first postulated by Kaplan and Smithers,s and afterwards by our group,1.2.9 Longmire et a1.1o and De Vita.7 How the scanty data on cells obtained from lymphoid organs fit in the picture it is still too early to say. Studies performed on the various categories of cells selectively prepared from such organs are likely to throw some light on the problem. V. GRIFONI G. S. DEL GIACCO Cattedra di Clinica Medica RR, P. E. MANCONI Università di Genova, Italy. S. TOGNELLA Istituto di Clinica Medica, G. MANTOVANI. Università di Cagliari, Sardinia.

IATROGENIC HIP DISEASE SiR,—In your editorial " you emphasised the considerable risk of avascular necrosis of the femoral head imposed by various regimens of conservative treatment for congenital dislocation of the hip, and you reported that application of a splint may provoke this disastrous complication. Mears 12 advocated the early surgical treatment even in the newborn. On the other hand, Fredensborg 13 reported that in Malm6, among 510 patients treated by the Rosen splint, not a single case of avascular necrosis developed. My opinion is that conservative treatment, even by the most simple means (splint, cushion, harness, &c.) is not always easy and harmless; yet when performed by well trained hands it gives the best results; it must be used only early, at least within the first 4-5 months of life, and in dysplasia of mild and middle degree. Only exceptionally should it be used in severe dislocations; in these surgical treatment, performed as Mears suggests, gives better results. In Malm6 all 510 cases had been treated since birth, and the dysplasia was usually of mild or moderate degree. By contrast, most of the cases reported by Gore 14 were treated later and some may have had complete dislocations, in which conservative treatment is unsatisfactory. Centro della Lussazione congenita delle anche, Arcispedale S. Anna, Ferrara, Italy.

Vita, V.T. ibid. 1973, 289, 801. Kaplan, H. S., Smithers, D. W. Lancet, 1959, ii, 1. Grifoni, V., Del Giacco, G. S., Tognella, S., Mantovani, G. Manconi, P. E. Rec. Progr. Med. 1974, 56, 392. Longmire, R. L., McMillan, R., Yelenoski, R., Armstrong, S. Lang, J. E., Craddock, C. G. New Engl. J. Med. 1973, 289, 763. Lancet, 1974, ii, 266. Mears, D. C. ibid. p. 780. Fredensborg, N. ibid. Gore, D. R. J. Bone Jt Surg. 1974, 56A, 493,

7. De

8. 9. 10. 11. 12. 13. 14.

M. ORTOLANI.

SEX-CHROMOSOME ABNORMALITIES IN HUSBANDS AND WIVES Sm,—Referring to Dr Howard’s letter (Dec. 21, p. 1526), we, too, have encountered marriage between two people with chromosomal abnormalities. The couple were studied because of recurrent abortion. The wife had a D-D translocation (45,XX,+t[13q,14q]), the husband was 47,XYY. The probability of such a marriage, based on newborn incidence-rates,! may be estimated as 6-3 x 10-7 (0.0009 x 0-0007). Of course, neither of these abnormalities would be expected to provide a physical or social barrier to marriage. However, we too would be interested in learning of other marriages between individuals with chromosomal aberrations, as a model for individuals who have somehow

escaped potentially pathological stigmata. Department of Pathology, Monmouth Medical Center, Long Branch, New Jersey 07740, U.S.A.

BARBARA E. SCHUH BRUCE R. KORF.

the occurrence of sex-chromosome a husband and wife, we should like report the discovery of an XXX-XYY marriage.

SiR,—Regarding aneuploidy in both to

family was referred for genetic evaluation after the birth boy (weight 3400 g., length 49 cm.) with severe unilateral microphthalmia, a prominent maxilla, low-set ears of unusual The

of

a

appearance, an inconsistent cardiac murmur, and bilateral simian creases. The 37-week gestation had been complicated by radiological examination of the lower spine in the first month and pre-eclampsia in the last month. The child died suddenly at home at one week of age. Necropsy revealed marked atrophy of the right eye, optic nerve, and orbit, mild preductal coarctation of the aorta with patent ductus arteriosus, and a small Meckel’s diverticulum. Tissue or blood for chromosome studies could not be obtained. Chromosomes of both parents were studied by trypsin-Giemsa and fluorescent banding techniques to exclude a balanced

chromosomal rearrangement which might have given rise to an unbalanced karyotype. The 27-year-old mother was 182 cm. tall, phenotypically normal, and of borderline intelligence. Her blood karyotype was 47,XXX, with 1 out of 19 cells being 46,XX. The 30-year-old father was of normal height and intelligence. His karyotype was 47,XYY, without evidence of mosaicism. Their 5-year-old son was normal on examination and had a 46,XY karyotype. There were no miscarriages; fertility was apparently not reduced.

The probability for such a marriage can be calculated using the incidence figures of XXX (0-0009) and XYY (0-0009) at birth,2 since there is no evidence for increased mortality for individuals with these sex-chromosome The calculated probability of 8.1 x 10-7 is trisomies.

similar to that for an XXX-XXY marriage. In contrast to the situation in the XXX-XXY marriage, where Klinefelter syndrome is associated with infertility, in the case of the XXX-XYY couple we have to be concerned about the risk of having offspring with sex-chromosome aneuploidy. Assummg that the extra Y chromosome segregates randomly at meiosis, the XYY male would produce gametes containing X, Y, XY, or YY in equal frequencies. The XXX female would be expected to produce oocytes containing X and XX in equal numbers. If gametes carrying two sex chromosomes had the same chance of reaching fertilisation as normal gametes with one sex chromosome, zygotes with seven different chromosomal constitutions should occur with the following probabilities: XX, XY, XXX, XYY, XXXY, and XXYY, each 12-5%; and XXY, 25%. The actual risk for sex-chromosome aneuploidy in offspring of this couple, however, must be much smaller than the theoretical 75%. Although YY1.

P. A., Melville, M., Ratcliffe, Ann. hum. Genet. 1974, 37, 359. 2. Jacobs, P. A., Melville, M., Ratcliffe,

Jacobs, ibid.

S., Keay, A. J., Syme, J.

S., Keay, A. J., Syme, J.

Letter: Iatrogenic hip disease.

333 there was increased number of sIgG bearing cells, E-rosette formation and P.H.A. transformation, depressed normal E.A.C.-rosette formation. Only...
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