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1. Nour-Eldin, F., Wilkinson, J. F. Brit. J. Hœmat. 1958, 4, 38.2. Wilkinson, J. F., Nour-Eldin, F., Israels, M. C. G. Lancet, 1958, ii, 115.3. Israels, M. C. G., Nour-Eldin, F., Wilkinson, J. F. Postgrad. med. J. 1959,
35, 514.
It may be of interest that we have just completed twofurther communications on the subject of the D.N.A. con-tent of human tumours in relation to their clinical and
pathological features and response to radiation therapy,which we hope will be published shortly.
N. B. ATKIN.
B. M. RICHARDS.
Department of Cancer Research,Mount Vernon Hospital,Northwood, Middlesex.
M.R.C. Biophysics Research Unit,King’s College, London, W.C.2.
HÆMOPHILIA A IN A "GIRL" WITH MALE
SEX-CHROMATIN PATTERN
F. NOUR-ELDIN.Department of Hæmatology,
The Royal Infirmary,Manchester, 13.
SIR,-In the case reported in The Lancet by ProfessorWaldenstrom and his colleagues (Sept. 5) the possibilityof combined deficiency of antihxmophilic globulin andcapillary defect (a variety of von Willebrand’s syndrome)was not excluded. Neither the fragility nor the morphologyof the capillaries were examined. Furthermore, Bridgeanticoagulant,l which is now used as a criterion for thediagnosis of true hxmophiha 2 3 was not tested for.
OSTEOCHONDRODYSTROPHY
D. WISE.Hillingdon Hospital,Uxbridge, Middlesex.
C. O. CARTER.
SiR,-In their account of a family affected by osteo-chondrodystrophy, Dr. Lomas and Dr. Boyle (Sept. 26)state that the disease was inherited as a mendelianrecessive. Study of the family tree shows inheritance as amendelian dominant.
Incomplete penetrance is suggested by the unexamined butprobably affected individual in the third generation, born of anormal father. However, if it is assumed that the disease is in-herited as a fully penetrant mendelian dominant, and that thedisease does not affect fertility, then when 100% of the firstgeneration are affected it is to be expected that 50% of thesecond generation and 25°% of the third generation will beaffected. These figures are close to the 55% and 22% found bythe authors.A fundamental issue is raised by the observation that " none
of those with minor involvement transmitted the condition,which thus tended to die out in succeeding generations." Thiswould make osteochondrodystrophy unique amongst hereditarydisorders, so an alternative explanation may perhaps provemore acceptable: if some members of the third generation arestill young they may yet manifest the disease; alternatively, ifthe disease is not fully penetrant, some apparently healthymembers of the third generation may yet have affected children.
It would be of great interest for a further report on this
family to be published in a few years’ time.Hillingdon Hospital, D WISEUxbiidge, Middlesex. D. WISE.
SIR,-Dr. Lomas’ and Dr. Boyle’s family with osteo-chondrodystrophy is an interesting one, but their accountof it may create confusion.
(1) The condition cannot be due to a " recessive factor ".The odds against 11
" markedly affected individuals havingeach met and married one of the rare carriers of the gene areastronomical.
(2) A dominant gene would explain the pedigree very well,except for the curious observation that all 16 children of"
slightly affected " individuals are normal. The evidence for adominant gene in this family is otherwise so strong that it islikely that the authors have misdiagnosed some of the
" slightlyaffected " or some of their children.
(3) While the nomenclature is not important, the patients inthis family differ substantially, both in the radiographs shown
1. James, D. G. Quart. J Med., 1959, 28, 109.2. James, D. G., Pepys, J. Lancet, 1956, i, 602.3. Hinshaw, H. C., Garland, L. H. (editors). Diseases of the Chest
p. 561. Philadelphia, 1956.
and in their obvious reproductive fitness, from the truly auto-somal recessive form of osteochondrodystrophy, first describedby Morquio, and by Brailsford, and many times since. They areperhaps closer to the single family described by Jacobsen, buthere a sex-linked recessive gene is concerned and no radio-graphs now exist of this family for comparison.Have Dr. Lomas and Dr. Boyle compared their patients
with those in other families, showing forms of osteochon-drodystrophy due to dominant genes ? Some of those,given rightly or wrongly the name of " multiple epi-physial dysplasia " with affected spines, show a resem-blance. Radiographs of hips and ankles, not illustrated inthe article, would be helpful in making comparisons.
Orpington, C CKent. C. 0. CARTER.
SARCOIDOSIS AND TUBERCULIN REACTION
SAMIR K. GUPTA.
SIR,-Surely Dr. Edelston (Sept. 26) is wrong in assum-ing that a positive tuberculin test excludes a diagnosis ofsarcoidosis. It is also surprising to learn that he has neverseen a case of sarcoidosis with a positive Mantoux reaction.
During the past two years, I have been able to observeseveral cases of proved sarcoidosis with a positive Mantouxtest. Three of them were positive to a dilution of 1/1000,though the usual strength to evoke a positive response laynear 1/100. In all these cases, the diagnosis has been con-firmed by scalene biopsy, Kveim test, and liver biopsy. In arecent paper, James1 has also stressed this point. He foundthat 100 tuberculin units might be necessary to evoke apositive response in sarcoidosis. Moreover some patientswith negative Mantoux reactions revealed sensitivity todepot tuberculin. 2 As many as 40% of his series had apositive reaction to tuberculin. A recent American text-book3 even says
" a positive reaction to tuberculin
is of no value in excluding sarcoidosis." It is generallysaid that after steroid therapy the skin may react to thetuberculin but I have noticed a reverse phenomenon inone case.
I agree with other correspondents (Sept. 19) that Dr,Edelston’s diagnosis of " thesaurosis " (Aug. 15) was
based on flimsy ground.London, N.4. SAMIR K. GUPTA.
EARLY DIAGNOSIS OF PREGNANCY
SIR,-Dr. Hobson’s observations (Sept. 19) on the
Hogben test are very sound, and this test must be regardedas the standard one. Your readers, however, might beinterested in another simple method of reaching a diag-nosis, using the cervical mucus, immediately after a missedperiod. This we have found a valuable precursor or
adjunct to the Hogben test in cases where there is realclinical doubt and where the diagnosis is important.
Papanicolaou described how a drop of cervical mucus
spread on a slide and left to dry, showed fern-like crystalsunder the low-power microscope. These crystals, which wehave shown to be composed largely of simple salt, are presentduring the follicular phase of a cycle but absent in the lutealphase and in pregnancy. Thus in metropathia or stress
amenorrhaea a single slide showing definite salt crystals gives acategorical diagnosis in a few minutes of non-pregnancy.Where no crystals are seen the patient may be pregnant, andthe test is repeated 4 days after an injection of 10 mg. aestradiol.This has no effect on the pregnant but produces crystals in thenon-pregnant. Zondek in Israel and we in Glasgow have usedthis method in over 300 cases and find it almost as reliable asthe gonadotrophin tests and frequently more suitable.